Fetal Diseases Category (5247 diseases)


Including: Fetal, Embryo, Teratogenic
See other categories (disease lists)

# Family MCID Name MIFTS
1 FTL028 Fetal Retinoid Syndrome 15
2 P PRG092 Pregnancy Loss, Recurrent 1 40
3 P PRM252 Preimplantation Embryonic Lethality 1 21
4 TWN001 Twin-to-Twin Transfusion Syndrome 45
5 NCH001 Nuchal Bleb, Familial 25
6 c RHB023 Rhabdomyosarcoma, Embryonal, 1 43
7 CHL043 Childhood Embryonal Testis Carcinoma 8
8 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 27
9 P CNT003 Central Nervous System Embryonal Carcinoma 10
10 P EMB005 Embryonal Rhabdomyosarcoma 53
11 FTL004 Fetal Erythroblastosis 32
12 CHL026 Childhood Ovarian Embryonal Carcinoma 8
13 c ADL007 Adult Central Nervous System Embryonal Carcinoma 7
14 FTL066 Fetal Akinesia Syndrome, X-Linked 14
15 FTL011 Fetal Aminopterin Syndrome 11
16 ACT091 Acitretin Embryopathy 8
17 CHL153 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified 5
18 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 24
19 P PRS062 Persistent Hyperplastic Primary Vitreous 44
20 GRM001 Germ Cell and Embryonal Cancer 32
21 c RHB021 Rhabdomyosarcoma, Embryonal, 2 23
22 c PRM251 Preimplantation Embryonic Lethality 2 16
23 PDT006 Pediatric Cns Embryonal Cell Carcinoma 7
24 PRS010 Prostate Embryonal Rhabdomyosarcoma 31
25 ORB002 Orbit Embryonal Rhabdomyosarcoma 30
26 MTR016 Maternal Hyperphenylalaninemia 21
27 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
28 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
29 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
30 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 5
31 GCH018 Gaucher Disease, Perinatal Lethal 50
32 EMB002 Embryoma 38
33 ALC001 Alcohol-Related Birth Defect 35
34 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 30
35 PRT001 Partial Fetal Alcohol Syndrome 23
36 FTL021 Fetal Macrosomia 42
37 c NML025 Nemaline Myopathy 8 35
38 FTL005 Fetal Adenoma 21
39 PRV001 Parovarian Cyst 20
40 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 20
41 CCN012 Cocaine Antenatal Exposure 15
42 FTL048 Fetal Lung Interstitial Tumor 14
43 NNT022 Neonatal Ovarian Cyst 14
44 HYD069 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism 11
45 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 11
46 FTL020 Fetal Left Ventricular Aneurysm 9
47 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
48 THY113 Thymic Aplasia with Fetal Death 8
49 RRG014 Rare Genetic Developmental Defect During Embryogenesis 5
50 MXD015 Mixed Type Rhabdomyosarcoma 5
51 SMT021 Somatomedin, Embryonic 4
52 FTL063 Fetal Nicotine Spectrum Disorder 3
53 OBS251 Obsolete: Embryonary Disorganization Syndrome 2
54 OBS547 Obsolete: Idiopathic Hydrops Fetalis 2
55 FTL017 Fetal Enterovirus Syndrome 2
56 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 1
57 FTL027 Fetal Phenothiazine Syndrome 1
58 c FNC027 Fanconi Anemia, Complementation Group a 81
59 PFF001 Pfeiffer Syndrome 79
60 XRD010 Xeroderma Pigmentosum, Variant Type 73
61 VNH007 Von Hippel-Lindau Syndrome 73
62 P JBR020 Joubert Syndrome 1 72
63 c NRF024 Neurofibromatosis, Type I 71
64 P OST001 Osteopetrosis 71
65 CNT097 Central Hypoventilation Syndrome, Congenital 70
66 CST001 Costello Syndrome 67
67 P CRB048 Cerebral Cavernous Malformations 67
68 P PSD087 Pseudoxanthoma Elasticum 67
69 P CCK001 Cockayne Syndrome 66
70 P SHW006 Shwachman-Diamond Syndrome 1 66
71 P HYD006 Hydrocephalus 65
72 FCL009 Focal Dermal Hypoplasia 65
73 RBR001 Roberts Syndrome 65
74 P HRP006 Herpes Simplex 65
75 P CLD001 Cleidocranial Dysplasia 65
76 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 64
77 DGR001 Digeorge Syndrome 63
78 SPT006 Septooptic Dysplasia 63
79 CNT061 Conotruncal Heart Malformations 63
80 P HYP055 Hypoplastic Left Heart Syndrome 62
81 P BCK002 Beckwith-Wiedemann Syndrome 62
82 CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 62
83 WLL001 Williams-Beuren Syndrome 62
84 P HMN010 Hemangioma 61
85 CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60
86 RGH009 Right Atrial Isomerism 60
87 P STS008 Sotos Syndrome 1 60
88 P ADM011 Adams-Oliver Syndrome 59
89 c CLR131 Ciliary Dyskinesia, Primary, 1 58
90 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58
91 P EHL001 Ehlers-Danlos Syndrome 57
92 MBS002 Moebius Syndrome 57
93 c PRX059 Peroxisome Biogenesis Disorder 1a 57
94 c GLC097 Glaucoma 3, Primary Congenital, a 56
95 c CRP023 Carpenter Syndrome 1 56
96 c BRC078 Brachydactyly, Type A1 56
97 CHR101 Char Syndrome 56
98 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 55
99 ANN002 Anencephaly 55
100 ANS023 Anus, Imperforate 55
101 P FNG006 Feingold Syndrome 1 55
102 CLF004 Cleft Lip/palate 54
103 P DXT004 Dextro-Looped Transposition of the Great Arteries 54
104 OCL020 Ocular Cicatricial Pemphigoid 54
105 FRY006 Fryns Microphthalmia Syndrome 54
106 P HYP050 Hyperinsulinemic Hypoglycemia 54
107 MLT135 Multiple Sulfatase Deficiency 53
108 RST011 Restrictive Dermopathy, Lethal 53
109 GLS018 Glass Syndrome 53
110 NNT012 Neonatal Jaundice 53
111 BRN003 Branchiooculofacial Syndrome 52
112 c LSS006 Lissencephaly 2 52
113 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 52
114 OLG003 Oligohydramnios 52
115 TRC062 Tricuspid Atresia 52
116 c JBR041 Joubert Syndrome 3 52
117 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 51
118 CHR005 Chorioamnionitis 51
119 SCR020 Sacral Defect with Anterior Meningocele 51
120 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 50
121 P SMP003 Simpson-Golabi-Behmel Syndrome 50
122 c BRC081 Brachydactyly, Type C 50
123 c BRD012 Bardet-Biedl Syndrome 11 50
124 c BRC079 Brachydactyly, Type A2 50
125 P NNT009 Neonatal Diabetes Mellitus 50
126 PLC008 Placenta Disease 49
127 RNP003 Renpenning Syndrome 1 49
128 ECT026 Ectopic Pregnancy 49
129 CHR222 Chromosome 1p36 Deletion Syndrome 49
130 P HLL001 Hallermann-Streiff Syndrome 48
131 P PRX021 Proximal Symphalangism 48
132 c BRD020 Bardet-Biedl Syndrome 8 48
133 SHR098 Short-Rib Thoracic Dysplasia 12 48
134 PLC007 Placental Abruption 48
135 c HLP028 Holoprosencephaly 5 48
136 c OPT050 Opitz Gbbb Syndrome, Type Ii 47
137 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 47
138 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
139 BHR002 Bohring-Opitz Syndrome 47
140 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 47
141 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 47
142 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47
143 c HYD064 Hydrocephalus, Congenital, 1 47
144 c WRD020 Waardenburg Syndrome, Type 4a 47
145 P MCL001 Mucolipidosis 47
146 ISL121 Isolated Split Hand-Split Foot Malformation 46
147 HMH004 Hemihyperplasia, Isolated 46
148 HMF009 Hemifacial Hyperplasia 46
149 PLY012 Polyhydramnios 46
150 c MCK033 Meckel Syndrome, Type 4 46
151 c SCP001 Sc Phocomelia Syndrome 46
152 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 46
153 c HLP025 Holoprosencephaly 9 46
154 HYP231 Hypothalamic Hamartomas 46
155 P HYP347 Hypotonia-Cystinuria Syndrome 46
156 P OCY003 Oocyte Maturation Defect 1 45
157 c JBR015 Joubert Syndrome 6 45
158 RNS001 Raine Syndrome 45
159 c JBR025 Joubert Syndrome 17 45
160 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 45
161 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 45
162 MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 45
163 c HLP029 Holoprosencephaly 4 45
164 PLC001 Placenta Accreta 44
165 c BRD033 Bardet-Biedl Syndrome 13 44
166 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
167 P PRT042 Parietal Foramina 44
168 HRL004 Hurler-Scheie Syndrome 43
169 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 43
170 c 46X001 46 Xy Gonadal Dysgenesis 43
171 SCH071 Schaaf-Yang Syndrome 43
172 KPS002 Kaposiform Hemangioendothelioma 43
173 P SYN012 Synpolydactyly 43
174 P CHN044 Chondrodysplasia Punctata Syndrome 43
175 c LPD019 Lipodystrophy, Partial, Acquired 43
176 c ANT071 Anterior Segment Dysgenesis 4 42
177 INT276 Interatrial Communication 42
178 MYH012 Myhre Syndrome 42
179 c JBR014 Joubert Syndrome 9 42
180 c TRN032 Transient Neonatal Diabetes Mellitus 42
181 CHR659 Chromosome 22q11.2 Duplication Syndrome 42
182 P MCR137 Microphthalmia, Isolated 2 41
183 CLF056 Cleft Lip with or Without Cleft Palate 41
184 BNB002 Bainbridge-Ropers Syndrome 41
185 c SPL024 Split-Hand/foot Malformation 3 41
186 c PST041 Posterior Urethral Valves 41
187 c WRB003 Warburg Micro Syndrome 2 41
188 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 41
189 P KLF001 Kleefstra Syndrome 40
190 c BRD048 Bardet-Biedl Syndrome 18 40
191 P TRC031 Trichorhinophalangeal Syndrome 40
192 c CNG504 Congenital Disorder of Glycosylation, Type Iip 39
193 c MCR114 Microphthalmia, Isolated 3 39
194 P CRN074 Coronary Artery Aneurysm 39
195 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 39
196 c FNC056 Fanconi Anemia, Complementation Group V 39
197 c CTR118 Cataract 14, Multiple Types 39
198 48X005 48,xyyy 39
199 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 39
200 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39
201 THR017 Thoracoabdominal Syndrome 39
202 c SPL034 Split-Hand/foot Malformation 4 39
203 c AML057 Amelogenesis Imperfecta, Type Iiia 39
204 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 38
205 CHR543 Chromosome 2q37 Deletion Syndrome 38
206 c CNG033 Congenital Syphilis 38
207 RPD005 Rapidly Involuting Congenital Hemangioma 38
208 c EPP015 Epiphyseal Dysplasia, Multiple, 3 38
209 c MYS078 Myasthenic Syndrome, Congenital, 14 38
210 CHR211 Chromosome 18p Deletion Syndrome 38
211 SCR035 Sacral Agenesis with Vertebral Anomalies 38
212 c DYS146 Dystonia 24 38
213 c MYS056 Myasthenic Syndrome, Congenital, 17 38
214 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 38
215 P OMD003 Omodysplasia 37
216 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 37
217 c SPL033 Split-Hand/foot Malformation 6 37
218 PLC009 Placenta Praevia 37
219 CHR502 Chromosome 17q12 Duplication Syndrome 37
220 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 37
221 HMM004 Hamamy Syndrome 37
222 c AML020 Amelogenesis Imperfecta, Type Iv 36
223 c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 36
224 c CLR134 Ciliary Dyskinesia, Primary, 3 36
225 c CTR122 Cataract 5, Multiple Types 36
226 c BRC062 Brachydactyly, Type D 36
227 c CRN109 Cranioectodermal Dysplasia 2 36
228 c SCK011 Seckel Syndrome 5 36
229 c CTR115 Cataract 16, Multiple Types 36
230 CLF028 Cleft Soft Palate 36
231 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 36
232 PTC001 Potocki-Shaffer Syndrome 36
233 c JBR037 Joubert Syndrome 26 36
234 c MYS076 Myasthenic Syndrome, Congenital, 8 36
235 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 36
236 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 35
237 ELS006 Elsahy-Waters Syndrome 35
238 PLT007 Palatopharyngeal Incompetence 35
239 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 35
240 CHR387 Chromosome Xp21 Deletion Syndrome 35
241 P MTP005 Metaphyseal Anadysplasia 34
242 P ENT005 Entropion 34
243 c FNC062 Fanconi Anemia, Complementation Group S 34
244 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 34
245 MCR183 Microcephaly-Capillary Malformation Syndrome 34
246 PRT049 Partial Deletion of Y 34
247 TRG019 Trigonocephaly with Short Stature and Developmental Delay 34
248 EMN001 Emanuel Syndrome 34
249 c WRD026 Waardenburg Syndrome, Type 2c 34
250 c DMN021 Diamond-Blackfan Anemia 6 34
251 c PK3005 Pik3ca-Related Overgrowth Syndrome 34
252 c CTR129 Cataract 31, Multiple Types 34
253 c NLD006 Nail Disorder, Nonsyndromic Congenital, 9 34
254 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 34
255 FCL090 Facial Cleft 33
256 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 33
257 c PLY136 Polydactyly, Preaxial I 33
258 BRC004 Brachydactyly-Syndactyly Syndrome 33
259 P ACR072 Acrorenal Syndrome 33
260 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 33
261 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 33
262 c PRX055 Peroxisome Biogenesis Disorder 11a 33
263 HYP223 Hypoplastic Right Heart Syndrome 33
264 c PLY149 Polydactyly, Preaxial Iv 33
265 c SYM022 Symphalangism, Proximal, 1a 33
266 WTT002 Witteveen-Kolk Syndrome 33
267 c MCR252 Microphthalmia, Syndromic 5 32
268 c BRC060 Brachydactyly, Type E2 32
269 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 32
270 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 32
271 c 46X049 46,xy Sex Reversal 2 32
272 c PRM022 Primary Syphilis 32
273 c CRP022 Carpenter Syndrome 2 32
274 48X003 48,xxyy Syndrome 31
275 P DSB002 Desbuquois Dysplasia 31
276 c ANT085 Anterior Segment Dysgenesis 5 31
277 c BRC099 Brachydactyly, Type A4 31
278 ANM001 Anemia of Prematurity 31
279 INF021 Infant Gynecomastia 31
280 CBB005 Cobblestone Lissencephaly 31
281 DSN002 Desanto-Shinawi Syndrome 31
282 ANR010 Aneurysm of Sinus of Valsalva 31
283 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 31
284 c RNG008 Ring Chromosome 13 31
285 PLM058 Pulmonary Atresia with Intact Ventricular Septum 30
286 c RNG005 Ring Chromosome 10 30
287 c RNG018 Ring Chromosome 22 30
288 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 30
289 CMP025 Camptodactyly, Tall Stature, and Hearing Loss Syndrome 30
290 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 30
291 TTR014 Tetrasomy 18p 30
292 DGT009 Digitotalar Dysmorphism 30
293 c PTT030 Pitt-Hopkins-Like Syndrome 2 30
294 CHR386 Chromosome 6pter-P24 Deletion Syndrome 30
295 CHR582 Chromosome 3q29 Duplication Syndrome 30
296 c ANT083 Anterior Segment Dysgenesis 7 30
297 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 29
298 TTR012 Tetrasomy 9p 29
299 c AML018 Amelogenesis Imperfecta, Type Ic 29
300 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 29
301 CHR524 Chromosome 16p13.3 Duplication Syndrome 29
302 P NNT006 Neonatal Myasthenia Gravis 29
303 NNN033 Noonan Syndrome and Noonan-Related Syndrome 29
304 CRN264 Craniosynostosis with Fibular Aplasia 29
305 RHM015 Rhombencephalosynapsis 29
306 MSM016 Mesomelic Dysplasia, Kantaputra Type 29
307 P PST016 Posterior Polar Cataract 29
308 FRS007 Frias Syndrome 29
309 PSD046 Pseudotrisomy 13 Syndrome 29
310 OCC011 Occipital Encephalocele 28
311 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 28
312 WLD004 Wildervanck Syndrome 28
313 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
314 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 28
315 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 28
316 CRB215 Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay 28
317 CRL006 Caroli Disease, Isolated 28
318 SKR001 Skraban-Deardorff Syndrome 28
319 CHR379 Chromosome 15q26-Qter Deletion Syndrome 28
320 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 28
321 P TRS029 Trisomy 1q 27
322 BRN055 Bronchogenic Cyst 27
323 FRN022 Frontofacionasal Dysplasia 27
324 c TYP003 Type I Ehlers-Danlos Syndrome 27
325 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 27
326 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 27
327 c PRX046 Peroxisome Biogenesis Disorder 7a 27
328 c RNG010 Ring Chromosome 15 27
329 MSC016 Mosaic Trisomy 14 27
330 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 27
331 c MRG010 Meier-Gorlin Syndrome 3 27
332 CHR399 Chromosome 4q21 Deletion Syndrome 27
333 CLV004 Calvarial Hyperostosis 27
334 MCR310 Microgastria-Limb Reduction Defects Association 27
335 NRN022 Neurenteric Cyst 27
336 CHR268 Chromosome 8q Duplication 27
337 c LTH047 Lethal Congenital Contracture Syndrome 3 27
338 DPH012 Diphallia 27
339 NNT005 Neonatal Candidiasis 27
340 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 27
341 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 27
342 ASS004 Aase-Smith Syndrome I 26
343 RCM003 Recombinant Chromosome 8 Syndrome 26
344 CHR190 Chromosome 12p Duplication 26
345 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 26
346 BLP041 Blepharochalasis and Double Lip 26
347 CDG001 Cdags Syndrome 26
348 c 46X017 46,xy Sex Reversal 6 26
349 CRN266 Craniofacial Dyssynostosis with Short Stature 26
350 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
351 SPN415 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 26
352 c ATR047 Atrioventricular Septal Defect 2 26
353 PGD001 Pagod Syndrome 26
354 c MCK028 Meckel Syndrome 13 26
355 ISL087 Isolated Oxycephaly 26
356 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 26
357 c DMN022 Diamond-Blackfan Anemia 9 26
358 c CFF012 Coffin-Siris Syndrome 7 26
359 c JBR043 Joubert Syndrome 32 26
360 PNL023 Penile Agenesis 26
361 PNS015 Penoscrotal Transposition 25
362 UTR054 Uterine Hypoplasia 25
363 c JBR021 Joubert Syndrome 18 25
364 c RNG017 Ring Chromosome 21 25
365 c BRN128 Branchiootic Syndrome 3 25
366 c DMN018 Diamond-Blackfan Anemia 5 25
367 c PTN012 Patent Ductus Arteriosus 3 25
368 c MRG011 Meier-Gorlin Syndrome 4 25
369 c TRS012 Trisomy 22 25
370 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 25
371 DYS179 Dyssegmental Dysplasia, Rolland-Desbuquois Type 25
372 XLN086 X-Linked Ehlers-Danlos Syndrome 25
373 c PRX052 Peroxisome Biogenesis Disorder 13a 25
374 KLB005 Kleeblattschaedel 25
375 CMP097 Complex Chromosomal Rearrangement 25
376 CHR266 Chromosome 8p23.1 Deletion 25
377 c HTR018 Heterotaxy, Visceral, 7, Autosomal 24
378 c RNG013 Ring Chromosome 18 24
379 c RTS002 Ritscher-Schinzel Syndrome 2 24
380 MCR067 Microcoria, Congenital 24
381 SCH055 Schilbach-Rott Syndrome 24
382 CGN001 Cogan-Reese Syndrome 24
383 CHR369 Chromosome Xq28 Duplication Syndrome 24
384 AXL004 Axial Mesodermal Dysplasia Spectrum 24
385 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 24
386 DFF022 Diffuse Neonatal Hemangiomatosis 24
387 NVR001 Nievergelt Syndrome 24
388 PLY135 Polydactyly, Postaxial, with Progressive Myopia 24
389 c VND004 Van Der Woude Syndrome 2 24
390 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 23
391 c SCK038 Seckel Syndrome 10 23
392 c ACR103 Acrofrontofacionasal Dysostosis 1 23
393 c FCL056 Facial Paresis, Hereditary Congenital, 3 23
394 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 23
395 c CNG100 Congenital Herpes Simplex 23
396 RGH006 Right Aortic Arch 23
397 HYP212 Hypomandibular Faciocranial Dysostosis 23
398 c BLP049 Blepharocheilodontic Syndrome 2 23
399 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 23
400 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 23
401 PRP090 Peripheral Dysostosis 23
402 c JBR038 Joubert Syndrome 27 23
403 c EPL243 Epileptic Encephalopathy, Early Infantile, 77 23
404 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 23
405 c RNG021 Ring Chromosome 5 23
406 P ART034 Aortopulmonary Window 23
407 c OVR107 Ovarian Dysgenesis 4 23
408 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 23
409 TTR021 Tetrasomy 21 23
410 FNT003 Fountain Syndrome 23
411 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 23
412 CLB011 Coloboma of Macula with Type B Brachydactyly 22
413 c OMP009 Omphalocele, Autosomal 22
414 c SYM019 Symphalangism, Proximal, 1b 22
415 INT337 Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 22
416 c HTR023 Heterotaxy, Visceral, 6, Autosomal 22
417 SYM024 Symphalangism, Distal 22
418 SCH025 Schisis Association 22
419 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
420 ZCH002 Zechi-Ceide Syndrome 22
421 c HLP022 Holoprosencephaly 8 22
422 8PN001 8p Inverted Duplication/deletion Syndrome 22
423 LMB014 Limb-Body Wall Complex 22
424 PHK008 Phakomatosis Cesioflammea 22
425 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 22
426 PRP101 Peripheral Pulmonary Stenosis 22
427 LRY028 Laryngocele 22
428 c CWD005 Cowden Syndrome 4 21
429 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 21
430 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
431 c MTP014 Metaphyseal Anadysplasia 2 21
432 TTR018 Tetragametic Chimerism 21
433 P PTR018 Paternal Uniparental Disomy of Chromosome 6 21
434 c HTR020 Heterotaxy, Visceral, 8, Autosomal 21
435 ATK002 Atkin-Flaitz Syndrome 21
436 c MLT078 Multiple Synostoses Syndrome 3 21
437 PLV015 Pelvis-Shoulder Dysplasia 21
438 MNS012 Monostotic Fibrous Dysplasia 21
439 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 21
440 2Q3005 2q31.1 Microdeletion Syndrome 21
441 ULN005 Ulna and Fibula, Hypoplasia of 21
442 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 21
443 CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 21
444 PLM116 Pulmonary Artery Hypoplasia 21
445 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
446 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 20
447 c OVR115 Ovarian Dysgenesis 5 20
448 c EXS021 Exostoses, Multiple, Type Iii 20
449 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 20
450 c ATR064 Atrioventricular Septal Defect 3 20
451 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 20
452 CMP039 Camptodactyly 1 20
453 c RNG025 Ring Chromosome 9 20
454 CRT061 Cor Triatriatum Dexter 20
455 SPN349 Spondylometaphyseal Dysplasia, Type A4 20
456 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 20
457 BRC100 Brachydactyly, Combined B and E Types 20
458 CHR416 Chromosome 17q Deletion 20
459 c SPN259 Spinocerebellar Ataxia 32 20
460 c ATP003 Atp6v0a2-Related Cutis Laxa 20
461 c ACR108 Acrocephalopolysyndactyly Type Iv 20
462 CRB164 Cerebrooculonasal Syndrome 20
463 RTH002 Rutherfurd Syndrome 20
464 CRN311 Coronary Ostial Stenosis or Atresia 20
465 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 20
466 CNG009 Congenital Aortic Valve Stenosis 20
467 c ART159 Aortic Valve Disease 3 20
468 VRR008 Verrucous Hemangioma 20
469 TRC114 Trichodental Dysplasia 20
470 DST059 Distal Trisomy 17q 20
471 c OVR120 Ovarian Dysgenesis 8 20
472 PLM067 Pulmonary Valves Agenesis 20
473 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
474 SBR011 Subaortic Stenosis--Short Stature Syndrome 19
475 c CRN279 Cornea Plana 1, Autosomal Dominant 19
476 ODN020 Odontoma-Dysphagia Syndrome 19
477 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 19
478 DYS134 Dysspondyloenchondromatosis 19
479 NSL020 Nasal Glial Heterotopia 19
480 c OCY002 Oocyte Maturation Defect 2 19
481 c RNG006 Ring Chromosome 11 19
482 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 19
483 CNG284 Congenital Pseudoarthrosis of the Tibia 19
484 c OCY005 Oocyte Maturation Defect 4 19
485 c CTR160 Cataract 45 19
486 MLT148 Multiple Pterygium Syndrome, X-Linked 19
487 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 19
488 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 19
489 JNT004 Joint Laxity, Short Stature, and Myopia 19
490 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 19
491 16P004 16p13.11 Microduplication Syndrome 19
492 16P003 16p13.11 Microdeletion Syndrome 19
493 c MTR083 Mitral Valve Prolapse 3 19
494 c 46X060 46,xx Disorder of Sex Development 19
495 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 19
496 MSC019 Mosaic Trisomy 7 19
497 c ATS454 Autosomal Trisomy 19
498 SBR012 Subaortic Stenosis, Membranous 18
499 ALN003 Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 18
500 EDN001 Edinburgh Malformation Syndrome 18
501 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 18
502 LMB057 Lumbosacral Spina Bifida Aperta 18
503 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 18
504 c MLG144 Malignant Hemangioma 18
505 c DMN049 Diamond-Blackfan Anemia 20 18
506 NNR005 Non-Rhizomelic Chondrodysplasia Punctata 18
507 c UNP012 Uniparental Disomy of Chromosome 7 18
508 c DNC008 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 18
509 c OCY007 Oocyte Maturation Defect 6 18
510 CHR614 Chromosome 16p13.2 Deletion Syndrome 18
511 17Q012 17q24.2 Microdeletion Syndrome 18
512 c DMN039 Diamond-Blackfan Anemia 17 18
513 FRY007 Fryns Macrocephaly 18
514 UNL015 Unilateral Aplasia of the Mullerian Ducts 18
515 BLT023 Bilateral Acute Depigmentation of the Iris 18
516 UPP007 Upper Thoracic Spina Bifida Cystica 18
517 CRV061 Cervicothoracic Spina Bifida Cystica 18
518 UPP008 Upper Thoracic Spina Bifida Aperta 18
519 THR085 Thoracolumbosacral Spina Bifida Aperta 18
520 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
521 ABS016 Absence of the Pulmonary Artery 18
522 FCL064 Facial Dysmorphism with Multiple Malformations 17
523 PLY133 Polysyndactyly with Cardiac Malformation 17
524 MMB012 Membranous Cranial Ossification, Delayed 17
525 EPB002 Epiblepharon 17
526 DYS180 Dyschondrosteosis and Nephritis 17
527 1QD001 1q Duplications 17
528 13Q001 13q12.3 Microdeletion Syndrome 17
529 ATR019 Atrial Septal Defect Sinus Venosus 17
530 c MTR062 Maternal Uniparental Disomy of Chromosome 4 17
531 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 17
532 c OCY006 Oocyte Maturation Defect 5 17
533 ACR078 Acral Self-Healing Collodion Baby 17
534 c RNG014 Ring Chromosome 19 17
535 HMR016 Humeroradioulnar Synostosis 17
536 BKS002 Book Syndrome 17
537 c RNG011 Ring Chromosome 16 17
538 c OCY004 Oocyte Maturation Defect 3 17
539 21Q001 21q22.11q22.12 Microdeletion Syndrome 17
540 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 17
541 XP2001 Xp22.3 Microdeletion Syndrome 17
542 GNC010 Genochondromatosis 17
543 SXC007 Sex-Chromosome Anomaly 17
544 P DNC006 Diencephalic-Mesencephalic Junction Dysplasia 17
545 SPN353 Spondylometaphyseal Dysplasia, X-Linked 17
546 DRL001 Dural Sinus Malformation 17
547 P CNG600 Congenital Arteriovenous Fistula 16
548 c MTR061 Maternal Uniparental Disomy of Chromosome 6 16
549 c CRN068 Corneal Endothelial Dystrophy Type 2 16
550 20Q003 20q11.2 Microdeletion Syndrome 16
551 CRV066 Cervical Aortic Arch 16
552 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 16
553 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 16
554 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16
555 c GLC052 Glaucoma 3, Primary Congenital, C 16
556 NND006 Non-Distal Monosomy 20q 16
557 PTN009 Patent Urachus 16
558 CMM018 Common Mesentery 16
559 CNG243 Congenital Subglottic Stenosis 16
560 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
561 c MTR067 Maternal Uniparental Disomy of Chromosome 16 16
562 ISL133 Isolated Epispadias 16
563 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 16
564 ESS005 Essential Iris Atrophy 16
565 PRN057 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 16
566 c PLY144 Polydactyly, Postaxial, Type A7 16
567 TRS011 Trisomy 2 Mosaicism 16
568 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
569 c PLY182 Polydactyly, Postaxial, Type A9 16
570 MSC079 Mosaic Trisomy 1 16
571 PFF010 Pfeiffer-Palm-Teller Syndrome 16
572 CYS047 Cystic Fibrosis, Modifier of, 1 16
573 THM021 Thumb Deformity and Alopecia 16
574 c PRT113 Parietal Foramina 3 16
575 LRS009 Larsen-Like Syndrome, Lethal Type 16
576 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
577 6Q1002 6q16 Microdeletion Syndrome 16
578 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 16
579 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 16
580 c KLF002 Kleefstra Syndrome Due to a Point Mutation 16
581 8P1001 8p11.2 Deletion Syndrome 15
582 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 15
583 c RNG031 Ring Chromosome Y Syndrome 15
584 CLB008 Coloboma of Eye Lens 15
585 ISL134 Isolated Craniosynostosis 15
586 11Q001 11q22.2q22.3 Microdeletion Syndrome 15
587 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
588 DYS049 Dysplastic Cortical Hyperostosis 15
589 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 15
590 XP2002 Xp22.13p22.2 Duplication Syndrome 15
591 MDL016 Midline Cervical Cleft 15
592 PTS017 Ptosis, Strabismus, and Ectopic Pupils 15
593 TTR010 Tetramelic Monodactyly 15
594 c OCY008 Oocyte Maturation Defect 7 15
595 c PST093 Posterior Hypospadias 15
596 5Q3002 5q31.3 Microdeletion Syndrome 15
597 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 15
598 PRT161 Partial Deletion of the Short Arm of Chromosome 3 15
599 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 15
600 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 15
601 20P001 20p12.3 Microdeletion Syndrome 15
602 TRN046 Transverse Vaginal Septum 15
603 ISL120 Isolated Cerebellar Agenesis 15
604 ESP040 Esophageal Duplication Cyst 15
605 c HYD068 Hydatidiform Mole, Recurrent, 4 15
606 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 15
607 MSC080 Mosaic Trisomy 12 14
608 DLT013 Deletion 5q35 14
609 SPN435 Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 14
610 c DMN048 Diamond-Blackfan Anemia 19 14
611 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
612 RDL031 Radial Aplasia, X-Linked 14
613 THR030 Thoraco Abdominal Enteric Duplication 14
614 c VSC043 Vesicoureteral Reflux 6 14
615 c HYP545 Hypospadias 3, Autosomal 14
616 ATR018 Atrial Septal Defect Ostium Primum 14
617 c MTR060 Maternal Uniparental Disomy of Chromosome 9 14
618 AST010 Astley-Kendall Syndrome 14
619 ART130 Arthrogryposis with Hyperkeratosis 14
620 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 14
621 LNG081 Longitudinal Vaginal Septum 14
622 HLL014 Hallux Varus and Preaxial Polysyndactyly 14
623 PLT010 Pili Torti Onychodysplasia 14
624 PRT237 Partial Deletion of the Long Arm of Chromosome 16 14
625 16P005 16p11.2p12.2 Microduplication Syndrome 14
626 MSC078 Mosaic Trisomy 17 14
627 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 14
628 c UNP007 Uniparental Disomy of Chromosome 6 13
629 10Q002 10q22.3q23.3 Microduplication Syndrome 13
630 P ANT062 Anterior Urethral Valve 13
631 MCR186 Microtriplication 11q24.1 13
632 P LRY049 Laryngotracheoesophageal Cleft Type 4 13
633 ANN015 Anonychia with Flexural Pigmentation 13
634 CNG587 Congenital Limb Malformation 13
635 c CHN027 Chondrodysplasia Lethal Recessive 13
636 NND003 Non-Distal Trisomy 10q 13
637 PST104 Postaxial Oligodactyly, Tetramelic 13
638 XLN133 X-Linked Intellectual Disability, Shashi Type 13
639 HRR003 Herrmann Opitz Craniosynostosis 13
640 EPP019 Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia 13
641 5Q3001 5q35 Microduplication Syndrome 13
642 KLL013 Kallmann Syndrome-Heart Disease Syndrome 13
643 PRT184 Partial Deletion of the Long Arm of Chromosome 11 13
644 PRT206 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 13
645 c CTR025 Cataract, Total Congenital 13
646 CRN087 Craniomicromelic Syndrome 13
647 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
648 RBN019 Robin Sequence with Distinctive Facial Appearance and Brachydactyly 13
649 PRT178 Partial Deletion of the Long Arm of Chromosome 5 13
650 DST052 Distal 7q11.23 Microduplication Syndrome 13
651 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 13
652 CRN204 Craniofacial Conodysplasia 13
653 BLT009 Bilateral Generalized Polymicrogyria 13
654 CHN047 Chondroectodermal Dysplasia with Night Blindness 13
655 ACH028 Acheiria 13
656 PRC041 Pericardial and Diaphragmatic Defect 13
657 ISL128 Isolated Microspherophakia 12
658 XSM001 X Small Rings 12
659 46X015 46,xy Ovotesticular Disorder of Sex Development 12
660 ACR121 Acromelic Dysplasia 12
661 NND005 Non-Distal Trisomy 13q 12
662 c TRS033 Trisomy 18-Like Syndrome 12
663 LTR017 Lateral Facial Cleft 12
664 c VSC040 Vesicoureteral Reflux 4 12
665 HYP852 Hypocalcemic Rickets 12
666 GZR001 Guizar Vasquez Sanchez Manzano Syndrome 12
667 GLS016 Glossopalatine Ankylosis 12
668 CNG357 Congenital Symblepharon 12
669 c PRM168 Primary Syringomyelia 12
670 NND004 Non-Distal Monosomy 10q 12
671 LWR017 Lower Limb Malformation-Hypospadias Syndrome 12
672 c SCL053 Sclerocornea, Autosomal Dominant 12
673 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 12
674 ONY006 Onychodystrophy-Anonychia 11
675 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
676 CRN194 Cranial Meningocele 11
677 XLN142 X-Linked Intellectual Disability, Stevenson Type 11
678 c ATS448 Autosomal Recessive Brachyolmia 11
679 CNG282 Congenital Knee Dislocation 11
680 HLP030 Holoprosencephaly-Caudal Dysgenesis Syndrome 11
681 TNN014 Tunnel Subaortic Stenosis 11
682 PLR014 Pleuro-Pericardial Cyst 11
683 FRY005 Fryns Smeets Thiry Syndrome 11
684 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 11
685 c CHR161 Chiari Malformation Type 3 11
686 c ZYG007 Zygodactyly Type 3 11
687 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
688 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 11
689 MSC090 Mosaic Trisomy 3 11
690 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
691 CRV060 Cervical Dermoid Cyst 11
692 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 11
693 MSC088 Mosaic Trisomy 5 11
694 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 11
695 c WCR002 Wac-Related Intellectual Disability 11
696 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 10
697 CNT077 Central Bilateral Macrogyria 10
698 SYM014 Symbrachydactyly of Hands and Feet 10
699 SYN148 Syndromic Aniridia 10
700 CNG279 Congenital Pseudoarthrosis of the Ulna 10
701 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 10
702 PRT169 Partial Deletion of the Short Arm of Chromosome 11 10
703 c CHR201 Chromosome 16, Uniparental Disomy 10
704 LWR014 Lower Limb Hypertrophy 10
705 c ATS065 Autosomal Dominant Coarctation of Aorta 10
706 PRT144 Partial Deletion of Chromosome 2 10
707 APD003 Apodia 10
708 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 10
709 DGS007 Digestive Duplication 10
710 PRM302 Paramedian Facial Cleft 10
711 c CHR232 Chromosome 21, Uniparental Disomy 10
712 PRT200 Partial Duplication of the Long Arm of Chromosome 2 10
713 4P1001 4p16.3 Microduplication Syndrome 10
714 CRD171 Cordiform Uterus 10
715 ISL022 Isolated Congenital Nasal Pyriform Aperture Stenosis 10
716 DST089 Distal Trisomy 3p 10
717 c EDR001 Eed-Related Overgrowth 10
718 XLN147 X-Linked Intellectual Disability, Stoll Type 10
719 PRT164 Partial Deletion of the Short Arm of Chromosome 8 10
720 PRC042 Parachute Tricuspid Valve 10
721 c CNG249 Congenital Pulmonary Venous Return Anomaly 9
722 FCL058 Facial Arteriovenous Malformation 9
723 BLR023 Biliary Atresia with Splenic Malformation Syndrome 9
724 PRT204 Partial Duplication of the Long Arm of Chromosome 4 9
725 CNG278 Congenital Pseudoarthrosis of the Radius 9
726 9Q3001 9q31.1q31.3 Microdeletion Syndrome 9
727 PRT215 Partial Duplication of the Short Arm of Chromosome 2 9
728 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 9
729 FBL017 Fibular Dimelia-Diplopodia Syndrome 9
730 DST085 Distal Trisomy 2q 9
731 c ZYG006 Zygodactyly Type 2 9
732 PRT187 Partial Duplication of Chromosome X 9
733 DST081 Distal Trisomy 11q 9
734 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 9
735 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 9
736 DST076 Distal Trisomy 13q 9
737 c ATS360 Autosomal Recessive Intellectual Disability 58 9
738 ERL041 Early-Onset Zonular Cataract 9
739 DBR003 Dobrow Syndrome 9
740 c UNP010 Uniparental Disomy of Chromosome 13 9
741 PRT145 Partial Deletion of Chromosome 3 9
742 PRT167 Partial Deletion of the Short Arm of Chromosome 9 9
743 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 9
744 CNG564 Congenital Respiratory-Biliary Fistula 9
745 PRT236 Partial Deletion of the Long Arm of Chromosome 15 9
746 PRT179 Partial Deletion of the Long Arm of Chromosome 6 9
747 ECT107 Ectasia of the Left Atrial Appendage 9
748 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 9
749 MLH001 Melhem Fahl Syndrome 9
750 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 8
751 BLK004 Blake Pouch Cyst 8
752 PRT231 Partial Duplication of Chromosome 4 8
753 PRT151 Partial Deletion of Chromosome 16 8
754 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 8
755 SYN127 Syndromic Ectopia Lentis 8
756 c UNP009 Uniparental Disomy of Chromosome 20 8
757 PRT230 Partial Duplication of Chromosome 3 8
758 CNG517 Congenital Agenesis of the Scrotum 8
759 PRT166 Partial Deletion of the Short Arm of Chromosome 10 8
760 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 8
761 CHN052 Choanal Atresia, Bilateral 8
762 PRT208 Partial Duplication of the Short Arm of Chromosome 8 8
763 PRT239 Partial Deletion of the Long Arm of Chromosome 18 8
764 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 8
765 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 8
766 PRT225 Partial Duplication of Chromosome 17 8
767 ERL042 Early-Onset Partial Cataract 8
768 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 8
769 c CRB078 Cerebrocostomandibular-Like Syndrome 8
770 c PRT182 Partial Monosomy of the Long Arm of Chromosome 9 8
771 PRT207 Partial Duplication of the Short Arm of Chromosome 7 8
772 PRT238 Partial Deletion of the Long Arm of Chromosome 17 8
773 SVR046 Severe Lateral Tibial Bowing with Short Stature 8
774 CNG318 Congenital Genu Recurvatum 8
775 DST087 Distal Trisomy 7p 8
776 PRT159 Partial Deletion of the Short Arm of Chromosome 1 8
777 CRN208 Coronary Sinus Atresia 8
778 ATR096 Atrioventricular Valve Anomaly 8
779 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
780 SPN082 Spina Bifida Hypospadias 7
781 PRT226 Partial Duplication of Chromosome 16 7
782 PRT234 Partial Duplication of Chromosome 7 7
783 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 7
784 PRT197 Partial Duplication of the Long Arm of Chromosome 15 7
785 PRT203 Partial Duplication of the Long Arm of Chromosome 7 7
786 DST084 Distal Trisomy 8q 7
787 SPN437 Spondylodysplastic Dysplasia 7
788 c ATS403 Autosomal Dominant Intellectual Disability 40 7
789 SYN147 Syndromic Ankyloblepharon Filiforme Adnatum 7
790 c CNG348 Congenital Sialidosis Type 2 7
791 PRT181 Partial Deletion of the Long Arm of Chromosome 8 7
792 MLT170 Multiple Congenital Anomalies/dysmorphic Syndrome 7
793 PRT146 Partial Deletion of Chromosome 8 7
794 PRT223 Partial Duplication of Chromosome 11 7
795 TRG018 Trigonocephaly-Broad Thumbs Syndrome 7
796 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
797 CNG334 Congenital Esophageal Diverticulum 7
798 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
799 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
800 c ATS410 Autosomal Dominant Intellectual Disability 49 7
801 PRT216 Partial Trisomy of Chromosome 20 7
802 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 7
803 LNG112 Longitudinal Limb Defect 7
804 URG006 Urogenital Tract Malformation 7
805 CNG107 Congenital Mitral Malformation 6
806 MLF005 Malformation Syndrome with Short Stature 6
807 PRT143 Partial Deletion of Chromosome 5 6
808 c PRT173 Partial Monosomy of the Short Arm of Chromosome 20 6
809 OKH001 Okihiro Syndrome Due to a Point Mutation 6
810 c MTR079 Maternal Uniparental Disomy of Chromosome 13 6
811 ECS003 Eec Syndrome and Related Disorders 6
812 PRT193 Partial Duplication of the Long Arm of Chromosome 11 6
813 PRT150 Partial Deletion of the Long Arm of Chromosome 12 6
814 PRT242 Partial Deletion of the Long Arm of Chromosome 21 6
815 DST058 Distal Monosomy 12p 6
816 ISL153 Isolated Congenital Aglossia 6
817 TRC084 Tricuspid Valve Agenesis 6
818 DST075 Distal Trisomy 16q 6
819 CHR512 Cheirospondyloenchondromatosis 6
820 c HYD017 Hydrocephalus Autosomal Recessive 6
821 PRT175 Partial Deletion of the Long Arm of Chromosome 2 6
822 UPP009 Upper Limb Hypertrophy 6
823 1P3003 1p35.2 Microdeletion Syndrome 6
824 7Q3001 7q31 Microdeletion Syndrome 6
825 PRT148 Partial Deletion of Chromosome 6 6
826 DST054 Distal 17p13.3 Microdeletion Syndrome 6
827 ATY043 Atypical Norrie Disease Due to Xp11.3 Microdeletion 6
828 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
829 DST088 Distal Trisomy 1p36 6
830 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
831 PRT158 Partial Deletion of the Short Arm of Chromosome 2 5
832 PRT172 Partial Deletion of the Short Arm of Chromosome 19 5
833 PRT209 Partial Duplication of the Short Arm of Chromosome 17 5
834 JNT005 Joint Formation Defects 5
835 AML036 Amelia of Lower Limb 5
836 EXT047 Extralobar Congenital Pulmonary Sequestration 5
837 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 5
838 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 5
839 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 5
840 DST077 Distal Trisomy 22q 5
841 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
842 c PRM303 Primary Early-Onset Glaucoma 5
843 c SCN083 Secondary Early-Onset Glaucoma 5
844 c YCH004 Y Chromosomal Anomaly 5
845 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 5
846 ISL044 Isolated Arhinencephaly 5
847 PRT155 Partial Deletion of Chromosome 17 5
848 3Q2005 3q26q27 Microdeletion Syndrome 5
849 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 5
850 PRT249 Partial Autosomal Monosomy 5
851 c OCL037 Oculodentodigital Dysplasia Dominant 5
852 CNG601 Congenital Tricuspid Malformation 5
853 CNG438 Congenital Disorder of Glycosylation with Developmental Anomaly 5
854 UTR055 Uterine Cervical Aplasia and Agenesis 5
855 c PRT194 Partial Trisomy of the Long Arm of Chromosome 9 5
856 PRT227 Partial Deletion of the Long Arm of Chromosome 22 5
857 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 5
858 GLB027 Global Cerebellar Malformation 5
859 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 5
860 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
861 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
862 ISL117 Isolated Congenital Radial Head Dislocation 5
863 HMR036 Humero-Ulnar Synostosis, Unilateral 5
864 HMR037 Humero-Ulnar Synostosis, Bilateral 5
865 STR109 Structural Developmental Eye Defect 5
866 CNG353 Congenital Partial Agenesis of Pericardium 5
867 NNT001 Neonatal Infective Mastitis 5
868 SYN097 Syndromic Urogenital Tract Malformation 5
869 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 5
870 c CHR251 Chromosome 5, Uniparental Disomy 4
871 CLS021 Closed Iniencephaly 4
872 LWM001 Low Implantation of Placenta 4
873 PRT201 Partial Duplication of the Long Arm of Chromosome 3 4
874 CNG577 Congenital Deformities of Limbs 4
875 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 4
876 MCR190 Macrodactyly of Toes, Unilateral 4
877 CDL007 Caudal Regression-Sirenomelia Spectrum 4
878 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
879 c PTR022 Paternal Uniparental Disomy of Chromosome 7 4
880 NND009 Non-Distal Trisomy 9q 4
881 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 4
882 CNG391 Congenital Pseudoarthrosis of the Limbs 4
883 PRT212 Partial Duplication of the Short Arm of Chromosome 16 4
884 PRT220 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 4
885 P ISL048 Isolated Cerebellar Vermis Agenesis 4
886 ISL051 Isolated Partial Cerebellar Vermis Agenesis 4
887 ABN008 Abnormal Origin of the Pulmonary Artery 4
888 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 4
889 CNG270 Congenital Primary Megaureter, Obstructed Form 4
890 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
891 CNG569 Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature 4
892 APR011 Aprosencephaly/atelencephaly Spectrum 4
893 ISL130 Isolated Congenital Entropion 4
894 UNL009 Unilateral Congenital Megacalycosis 4
895 DPH030 Diaphragmatic or Abdominal Wall Malformation 4
896 ATR095 Atrial Appendage Anomaly 4
897 MLF008 Malformation of the Cerebellar Hemispheres 4
898 c ACS002 Acsl4-Related Intellectual Disability 4
899 c ARX002 Arx-Related Intellectual Disability 4
900 MDN006 Median Cleft of the Upper Lip and Maxilla 4
901 PRT233 Partial Duplication of Chromosome 6 4
902 PRT243 Partial Duplication of the Short Arm of Chromosome 1 4
903 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
904 MCR187 Macrodactyly of Fingers, Bilateral 4
905 LTH049 Lethal Multiple Congenital Anomalies/dysmorphic Syndrome 4
906 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
907 CRN316 Craniosynostosis-Microretrognathia-Several Intellectual Disability Syndrome 4
908 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
909 ENC035 Encircling Double Aortic Arch 4
910 SYN157 Syndromic Respiratory or Mediastinal Malformation 4
911 c SYN028 Syngnathia Multiple Anomalies 3
912 SYN111 Syndrome with a Cerebellar Malformation As Major Feature 3
913 SPR109 Supratip Dysplasia 3
914 DYS207 Dysostosis with Brachydactyly Without Extraskeletal Manifestations 3
915 ECT112 Ectrodactyly with and Without Other Manifestations 3
916 OVR117 Overgrowth Syndrome with 2q37 Translocation 3
917 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 3
918 ISL132 Isolated Megalopapilla 3
919 ANT090 Anterior Segment Developmental Abnormality with Extraocular Manifestations 3
920 ANM023 Anomaly of the Tricuspid Subvalvular Apparatus 3
921 STR075 Straddling or Overriding Tricuspid Valve 3
922 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 3
923 PTL012 Patellar Dysostosis 3
924 NNS060 Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy 3
925 STR076 Straddling and/or Overriding Mitral Valve 3
926 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 3
927 CNG360 Congenital Unguarded Mitral Orifice 3
928 CNG361 Congenital Supravalvular Mitral Ring 3
929 ANT094 Anterior Segment Developmental Anomaly Without Extraocular Manifestations 3
930 HRT042 Heart Position Anomaly 3
931 ANM025 Anomaly of the Mitral Subvalvular Apparatus 3
932 PRR036 Pierre Robin Syndrome Associated with Collagen Disease 3
933 PRR039 Pierre Robin Syndrome Associated with Branchial Archs Anomalies 3
934 P YCH005 Y Chromosome Number Anomaly 3
935 DPH029 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome 3
936 c TTL013 Total Autosomal Trisomy 3
937 SXC005 Sex-Chromosome Number Anomaly 3
938 SXC006 Sex-Chromosome Structural Anomaly 3
939 P CHR690 Chromosome Y Structural Anomaly 3
940 c CHR691 Chromosome X Structural Anomaly 3
941 NNS062 Non-Syndromic Limb Malformation 3
942 NNS065 Non-Syndromic Diaphragmatic or Abdominal Wall Malformation 3
943 PNN007 Pinnae and External Auditory Canal Anomaly 3
944 SYN110 Syndrome with Microcephaly As Major Feature 3
945 CNG585 Congenital Primary Megaureter, Refluxing and Obstructed Form 3
946 NNS052 Non-Syndromic Urogenital Tract Malformation of Male and Female 2
947 SYN107 Syndrome or Malformation Associated with Head and Neck Malformations 2
948 ORM003 Oromandibular-Limb Anomalies Syndrome 2
949 PLY186 Polysomy of X Chromosome 2
950 XCH001 X Chromosome Number Anomaly with Male Phenotype 2
951 CHR693 Chromosomal Disease with Overgrowth 2
952 NNS066 Non-Syndromic Visceral Malformation 2
953 NNS069 Non-Syndromic Esophageal Malformation 2
954 EMB004 Embryonal Carcinoma 57
955 c WLM018 Wilms Tumor 5 62
956 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 45
957 EMB006 Embryonal Testis Carcinoma 31
958 OVR050 Ovarian Embryonal Carcinoma 35
959 INT041 Intratubular Embryonal Carcinoma 28
960 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 20
961 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 15
962 c WLM013 Wilms Tumor 1 65
963 P EPN001 Ependymoblastoma 45
964 c WLM011 Wilms Tumor 6 37
965 P HRD009 Hereditary Wilms' Tumor 31
966 c WLM005 Wilms Tumor 2 28
967 c WLM015 Wilms Tumor 3 19
968 c WLM017 Wilms Tumor 4 18
969 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
970 c ADL045 Adult Ependymoblastoma 14
971 c FML094 Familial Wilms Tumor 2 9
972 TRT001 Teratocarcinoma 46
973 P END039 Endodermal Sinus Tumor 42
974 c ADL047 Adult Endodermal Sinus Tumor 9
975 P LFT003 Left Ventricular Noncompaction 55
976 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 44
977 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 38
978 P BTR001 Botryoid Rhabdomyosarcoma 35
979 c LFT021 Left Ventricular Noncompaction 1 35
980 c LFT017 Left Ventricular Noncompaction 8 27
981 c LFT018 Left Ventricular Noncompaction 10 24
982 c LFT020 Left Ventricular Noncompaction 7 20
983 c LFT011 Left Ventricular Noncompaction 2 17
984 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 17
985 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 12
986 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
987 P PTN014 Patent Ductus Arteriosus 1 60
988 c HYD046 Hydatidiform Mole, Recurrent, 1 59
989 GRM005 Germ Cell Cancer 47
990 EMB007 Embryonal Sarcoma 41
991 CNT115 Central Nervous System Embryonal Tumor 23
992 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 22
993 EMB017 Embryonal Tumor of Neuroepithelial Tissue 3
994 NNR010 Non-Rare Developmental Anomalies During Embryogenesis 3
995 P ALG028 Alagille Syndrome 1 73
996 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
997 SMT004 Smith-Lemli-Opitz Syndrome 69
998 P HLP001 Holoprosencephaly 68
999 P MLG056 Malignant Hyperthermia 67
1000 P ANG001 Angelman Syndrome 67
1001 P BRD002 Bardet-Biedl Syndrome 66
1002 c MCL013 Mucolipidosis Iv 64
1003 c ART101 Aortic Valve Disease 2 63
1004 P RNL100 Renal Hypodysplasia/aplasia 1 63
1005 KRN002 Kearns-Sayre Syndrome 63
1006 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62
1007 HLT001 Holt-Oram Syndrome 62
1008 c BRN108 Branchiootic Syndrome 1 61
1009 P MCR256 Microphthalmia, Syndromic 9 61
1010 OST024 Osteoporosis-Pseudoglioma Syndrome 60
1011 P TXP001 Toxoplasmosis 60
1012 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 60
1013 HJD001 Hajdu-Cheney Syndrome 60
1014 CFF002 Coffin-Lowry Syndrome 60
1015 P PTT014 Pitt-Hopkins Syndrome 60
1016 P SYP003 Syphilis 59
1017 P RBL001 Rubella 58
1018 P INT070 Intestinal Obstruction 58
1019 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58
1020 ANG020 Angiosarcoma 58
1021 SPR004 Supravalvular Aortic Stenosis 58
1022 c LYS021 Loeys-Dietz Syndrome 3 58
1023 c FRS014 Fraser Syndrome 1 58
1024 NWB001 Newborn Respiratory Distress Syndrome 58
1025 c HYP292 Hypophosphatasia, Infantile 57
1026 BRN056 Bronchopulmonary Dysplasia 57
1027 ENC044 Enchondromatosis, Multiple, Ollier Type 57
1028 c MYT020 Myotonic Dystrophy 2 57
1029 c AML044 Amelogenesis Imperfecta, Type Ig 56
1030 c CRN139 Cornelia De Lange Syndrome 1 56
1031 P MTC069 Mitochondrial Disorders 56
1032 P PSD015 Pseudohypoparathyroidism 56
1033 P VNB005 Van Buchem Disease 55
1034 P MRG008 Meier-Gorlin Syndrome 1 55
1035 CNN011 Cenani-Lenz Syndactyly Syndrome 54
1036 GST009 Gastroschisis 54
1037 P BRC006 Brachydactyly 53
1038 c HLP023 Holoprosencephaly 1 53
1039 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 53
1040 MWT001 Mowat-Wilson Syndrome 52
1041 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 52
1042 OCC006 Occipital Horn Syndrome 52
1043 P VSC013 Visceral Heterotaxy 52
1044 ABL002 Ablepharon-Macrostomia Syndrome 52
1045 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 52
1046 PYL017 Pyle Disease 52
1047 JHN001 Johanson-Blizzard Syndrome 52
1048 MLL018 Miller-Dieker Lissencephaly Syndrome 52
1049 P TRT010 Teratoma 51
1050 NRL002 Neurilemmomatosis 51
1051 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 51
1052 VTR016 Vater/vacterl Association 51
1053 c LTH007 Lethal Congenital Contracture Syndrome 1 51
1054 c LYS017 Loeys-Dietz Syndrome 4 51
1055 c RBN022 Robinow Syndrome, Autosomal Recessive 1 51
1056 c HLP024 Holoprosencephaly 2 50
1057 CHN065 Choanal Atresia, Posterior 50
1058 P CNG003 Congenital Dyserythropoietic Anemia 50
1059 c CNG216 Congenital Hydrocephalus 50
1060 P OVR082 Overgrowth Syndrome 50
1061 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 50
1062 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 50
1063 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 49
1064 P MYT002 Myotonic Dystrophy 49
1065 SHR044 Short Rib-Polydactyly Syndrome 49
1066 47X002 47,xyy 49
1067 PLM041 Pulmonary Valve Stenosis 49
1068 CNG069 Congenital Cytomegalovirus 49
1069 c ART061 Arthrogryposis, Distal, Type 2a 49
1070 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
1071 HND004 Hand-Foot-Genital Syndrome 49
1072 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 48
1073 CRD002 Cri-Du-Chat Syndrome 48
1074 c SCL045 Sclerosteosis 1 48
1075 P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48
1076 c PNT049 Pontocerebellar Hypoplasia, Type 2d 48
1077 c SCK009 Seckel Syndrome 1 47
1078 c HLP026 Holoprosencephaly 3 47
1079 P AML002 Amelogenesis Imperfecta 47
1080 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 47
1081 WRS002 Warsaw Breakage Syndrome 47
1082 TTR011 Tetraploidy 47
1083 P PRS049 Persistent Mullerian Duct Syndrome 47
1084 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 47
1085 c CNG209 Congenital Disorder of Glycosylation, Type Iif 46
1086 HYR002 Hoyeraal Hreidarsson Syndrome 46
1087 CTS011 Cutis Marmorata Telangiectatica Congenita 46
1088 c LYM145 Lymphatic Malformation 5 46
1089 MCR037 Macroglossia 45
1090 c SPN312 Spinocerebellar Ataxia 14 45
1091 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 45
1092 c XFP001 Xfe Progeroid Syndrome 45
1093 GLD006 Goldberg-Shprintzen Syndrome 45
1094 P SXD002 Sex Development Disorder 45
1095 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 45
1096 c CRN278 Craniosynostosis 1 45
1097 c MCK012 Meckel Syndrome, Type 6 45
1098 DBT090 Diabetes and Deafness, Maternally Inherited 45
1099 c WRD024 Waardenburg Syndrome, Type 4c 45
1100 c HLP016 Holoprosencephaly 11 44
1101 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 44
1102 c RNL122 Renal Hypodysplasia/aplasia 3 44
1103 c ACH033 Achondrogenesis, Type Ia 44
1104 TRC097 Tracheomalacia 44
1105 LRY022 Laryngoonychocutaneous Syndrome 44
1106 OHD005 Ohdo Syndrome, Sbbys Variant 44
1107 MRG013 Mirage Syndrome 44
1108 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 44
1109 SCH030 Schneckenbecken Dysplasia 44
1110 BRT059 Bartsocas-Papas Syndrome 43
1111 ACR002 Acrocapitofemoral Dysplasia 43
1112 P ORF002 Orofacial Cleft 43
1113 c ATS393 Autosomal Recessive Cutis Laxa Type I 43
1114 P SYN075 Syngnathia 43
1115 WYR002 Weyers Acrofacial Dysostosis 43
1116 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 43
1117 SCH037 Schinzel-Giedion Midface Retraction Syndrome 43
1118 BNT003 Bent Bone Dysplasia Syndrome 43
1119 TRP009 Triple X Syndrome 42
1120 c DFN136 Deafness, Autosomal Dominant 9 42
1121 OGD001 Ogden Syndrome 42
1122 DXT002 Dextrocardia with Situs Inversus 42
1123 STL007 Steel Syndrome 42
1124 MLT084 Multicystic Dysplastic Kidney 42
1125 MCR103 Microtia 42
1126 TRP014 Triploidy 42
1127 GNT031 Genitopatellar Syndrome 42
1128 YLL001 Yellow Nail Syndrome 42
1129 P CRN013 Craniodiaphyseal Dysplasia 42
1130 c BNG093 Benign Teratoma 42
1131 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 41
1132 c MLG081 Malignant Teratoma 41
1133 c OST118 Osteogenesis Imperfecta, Type Viii 41
1134 c NLD016 Nail Disorder, Nonsyndromic Congenital, 10 41
1135 VLP002 Valproate Embryopathy 41
1136 CHR594 Chromosome 3q29 Deletion Syndrome 41
1137 c CHR579 Chiari Malformation Type Ii 41
1138 c CLR136 Ciliary Dyskinesia, Primary, 9 41
1139 P BRC003 Brachyolmia 41
1140 P BRN042 Branchiootic Syndrome 41
1141 DPH019 Diaphanospondylodysostosis 41
1142 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 41
1143 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 41
1144 ACR043 Acromicric Dysplasia 41
1145 P HRD086 Hereditary Hypophosphatemic Rickets 40
1146 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1147 c BRC052 Brachydactyly, Type B2 40
1148 c BRD021 Bardet-Biedl Syndrome 9 40
1149 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 40
1150 LRN006 Laurin-Sandrow Syndrome 40
1151 c NNN009 Noonan Syndrome 2 40
1152 CHR667 Chromosome 3pter-P25 Deletion Syndrome 40
1153 CRY032 Carey-Fineman-Ziter Syndrome 40
1154 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 40
1155 BLR027 Blue Rubber Bleb Nevus 40
1156 P MCR364 Macrodactyly 40
1157 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 40
1158 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 40
1159 PLY100 Polyploidy 40
1160 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 40
1161 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 39
1162 c SCN006 Secondary Syphilis 39
1163 c ADM005 Adams-Oliver Syndrome 1 39
1164 END059 Endocrine-Cerebroosteodysplasia 39
1165 c CTR183 Cataract 38 39
1166 c HLP027 Holoprosencephaly 7 39
1167 GST052 Gestational Choriocarcinoma 39
1168 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 39
1169 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 39
1170 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39
1171 CHR382 Chromosome 18q Deletion Syndrome 38
1172 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1173 ACR016 Acromesomelic Dysplasia 38
1174 c LRS002 Larsen-Like Syndrome 38
1175 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 38
1176 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 37
1177 CRN088 Craniorachischisis 37
1178 OCL039 Oculoectodermal Syndrome 37
1179 CHR518 Chromosome 9p Deletion Syndrome 37
1180 c CNG513 Congenital Ptosis 37
1181 BLR028 Biliary Atresia, Extrahepatic 37
1182 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 37
1183 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 37
1184 c ATS282 Autosomal Recessive Malignant Osteopetrosis 37
1185 MTC018 Metachondromatosis 37
1186 P MNN007 Meningocele 37
1187 c WRD022 Waardenburg Syndrome, Type 2d 36
1188 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36
1189 P ATL001 Atelosteogenesis 36
1190 c LPR012 Leopard Syndrome 1 36
1191 CHN040 Choanal Atresia and Lymphedema 36
1192 c PTT042 Pitt-Hopkins-Like Syndrome 36
1193 c RNG004 Ring Chromosome 1 36
1194 P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 36
1195 PLY036 Polyembryoma 36
1196 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 36
1197 c PGT007 Paget Disease of Bone 3 36
1198 c HTR021 Heterotaxy, Visceral, 5, Autosomal 36
1199 ISL109 Isolated Cleft Lip 36
1200 EPP011 Epiphyseal Chondrodysplasia, Miura Type 35
1201 c CLR135 Ciliary Dyskinesia, Primary, 7 35
1202 TTH004 Tethered Spinal Cord Syndrome 35
1203 HYP682 Hypertelorism, Teebi Type 35
1204 c CTR141 Cataract 21, Multiple Types 35
1205 c PRT059 Parietal Foramina 1 35
1206 NNT004 Neonatal Respiratory Failure 35
1207 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 35
1208 ISL062 Isolated Plagiocephaly 35
1209 DYS048 Dysplasia Epiphysealis Hemimelica 35
1210 CRD017 Cardiac Valvular Dysplasia, X-Linked 35
1211 OST062 Osteoarthritis with Mild Chondrodysplasia 35
1212 c USH031 Usher Syndrome, Type Ij 35
1213 c KNN009 Kenny-Caffey Syndrome, Type 1 35
1214 c 46X055 46,xy Sex Reversal 3 35
1215 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 35
1216 c MNS014 Monosomy 22 35
1217 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 35
1218 LMB008 Limb-Mammary Syndrome 35
1219 c OST106 Osteopetrosis, Autosomal Recessive 8 34
1220 c MCR109 Microphthalmia, Isolated 4 34
1221 OSB001 Osebold-Remondini Syndrome 34
1222 HLZ001 Holzgreve Syndrome 34
1223 RFM001 Roifman Syndrome 34
1224 P EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 34
1225 c DFN111 Deafness, Autosomal Recessive 35 34
1226 CHR523 Chromosome 15q11.2 Deletion Syndrome 34
1227 PRP093 Pierpont Syndrome 34
1228 c ADL057 Adult Teratoma 34
1229 EMP011 Emphysema, Congenital Lobar 34
1230 c LSS010 Lissencephaly 4 33
1231 c ATL012 Atelosteogenesis, Type Iii 33
1232 CYS021 Cystic Adenomatoid Malformation of Lung 33
1233 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 33
1234 SPN154 Spondyloperipheral Dysplasia 33
1235 PRG023 Progeroid Short Stature with Pigmented Nevi 33
1236 c VCT004 Vacterl Association with Hydrocephalus 33
1237 OTD001 Otodental Dysplasia 33
1238 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 33
1239 MSC020 Mosaic Trisomy 8 33
1240 SPT023 Septate Uterus 33
1241 AMN014 Aminopterin Syndrome Sine Aminopterin 33
1242 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33
1243 c ADM007 Adams-Oliver Syndrome 2 33
1244 c LTC001 Late Congenital Syphilis 33
1245 c BRC075 Brachydactyly, Type A1, C 33
1246 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 32
1247 FMR018 Femoral-Facial Syndrome 32
1248 c PGT009 Paget Disease of Bone 2, Early-Onset 32
1249 P SCL047 Sclerocornea 32
1250 P PLM182 Pulmonary Hypoplasia, Primary 32
1251 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 32
1252 CHR377 Chromosome 10q26 Deletion Syndrome 32
1253 ISL011 Isolated Aniridia 32
1254 c GLP003 Geleophysic Dysplasia 1 32
1255 c SMT018 Smith-Mccort Dysplasia 2 32
1256 c FML084 Familial Porencephaly 31
1257 CDL005 Caudal Duplication Anomaly 31
1258 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 31
1259 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 31
1260 SPN012 Spindle Cell Hemangioma 31
1261 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 31
1262 P ALB003 Albinism-Deafness Syndrome 31
1263 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 31
1264 c DFN248 Deafness, Autosomal Recessive 18b 31
1265 MLR023 Melorheostosis, Isolated 31
1266 c CRN135 Cornelia De Lange Syndrome 3 31
1267 c SCN005 Secondary Hypertrophic Osteoarthropathy 31
1268 c DFN099 Deafness, Autosomal Dominant 2b 31
1269 c SPL025 Split-Hand/foot Malformation 5 31
1270 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 31
1271 DYS045 Dysosteosclerosis 31
1272 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 31
1273 ATY016 Atypical Werner Syndrome 31
1274 c ORF048 Orofacial Cleft 1 31
1275 WRF003 Warfarin Syndrome 30
1276 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 30
1277 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 30
1278 MTR087 Maternal Uniparental Disomy 30
1279 MYP038 Myopathy, Congenital, Compton-North 30
1280 MSC021 Mosaic Trisomy 9 30
1281 c GLL040 Galloway-Mowat Syndrome 3 30
1282 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 30
1283 MLL011 Mullerian Aplasia and Hyperandrogenism 30
1284 c DFN119 Deafness, Autosomal Dominant 50 30
1285 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
1286 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1287 P MTR051 Maternal Uniparental Disomy of Chromosome 1 30
1288 P VNM004 Van Maldergem Syndrome 30
1289 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 30
1290 c OST138 Osteogenesis Imperfecta, Type Xvii 30
1291 c ERL002 Early Congenital Syphilis 29
1292 FTL007 Fetal Hydantoin Syndrome 29
1293 c SCK032 Seckel Syndrome 6 29
1294 c DFN260 Deafness, Autosomal Recessive 89 29
1295 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 29
1296 P ACR106 Acrocephalopolysyndactyly Type Iii 29
1297 PLM013 Pulmonary Immaturity 29
1298 c VNT028 Ventricular Septal Defect 1 29
1299 12Q002 12q14 Microdeletion Syndrome 29
1300 HYP364 Hyperostosis Frontalis Interna 29
1301 CLF049 Cleft Lip and Alveolus 29
1302 c PRT060 Parietal Foramina 2 29
1303 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 29
1304 c BNM015 Bone Mineral Density Quantitative Trait Locus 18 29
1305 LYM122 Lymphangiectasia, Pulmonary, Congenital 29
1306 c DFN254 Deafness, Autosomal Recessive 84b 29
1307 49X001 49, Xxxxx 29
1308 WLL012 Williams-Beuren Region Duplication Syndrome 29
1309 c ORF027 Orofacial Cleft 11 29
1310 UVL009 Uvula, Bifid 29
1311 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 29
1312 c LSS009 Lissencephaly 3 28
1313 c HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 28
1314 c HRD202 Hereditary Lymphedema I 28
1315 FCL047 Facial Clefting, Oblique, 1 28
1316 CYS041 Cystic Angiomatosis of Bone, Diffuse 28
1317 MSM004 Mesomelia-Synostoses Syndrome 28
1318 MCR302 Macrostomia, Isolated 28
1319 HYP180 Hypertrichosis Lanuginosa Congenita 28
1320 DFN039 Deafness-Infertility Syndrome 28
1321 16Q001 16q24.3 Microdeletion Syndrome 28
1322 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 28
1323 c SYN060 Syndactyly, Type Iii 28
1324 CHR229 Chromosome 20p Duplication 28
1325 c CTR166 Cataract 33, Multiple Types 28
1326 HRY005 Hairy Elbows 27
1327 XLN235 X-Linked Intellectual Disability with Marfanoid Habitus 27
1328 c MLG151 Malignant Hyperthermia 5 27
1329 c ORT012 Orthostatic Hypotension 2 27
1330 KPS005 Kaposiform Lymphangiomatosis 27
1331 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 27
1332 ART030 Aortic Arch Interruption 27
1333 c CTR125 Cataract 7 27
1334 CHR265 Chromosome 8p Duplication 27
1335 DGT002 Digital Clubbing, Isolated Congenital 27
1336 FTL062 Fetal Iodine Deficiency Disorder 27
1337 ACR039 Acromegaloid Hypertrichosis Syndrome 27
1338 c ERL012 Early-Onset Glaucoma 27
1339 LBN004 Liebenberg Syndrome 27
1340 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 26
1341 FTL064 Fetal Methylmercury Syndrome 26
1342 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 26
1343 P VTM003 Vitamin Metabolic Disorder 26
1344 KPR002 Kapur-Toriello Syndrome 26
1345 c RNG015 Ring Chromosome 2 26
1346 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
1347 NNG002 Non-Gestational Ovarian Choriocarcinoma 26
1348 CHR209 Chromosome 17p Duplication 26
1349 YNH001 Yuan-Harel-Lupski Syndrome 26
1350 c XLN004 X-Linked Nonsyndromic Deafness 26
1351 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
1352 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 26
1353 CHR248 Chromosome 4p Duplication 26
1354 APR009 Aprosencephaly Syndrome 26
1355 c ART156 Arthrogryposis, Distal, Type 2b2 26
1356 P PRG139 Progeroid Syndrome 26
1357 c PK3004 Pik3ca-Related Overgrowth Spectrum 26
1358 OCL040 Oculomaxillofacial Dysostosis 26
1359 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 26
1360 c OTF003 Otofaciocervical Syndrome 2 26
1361 CMP035 Complete Atrioventricular Canal 26
1362 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 26
1363 c JBR039 Joubert Syndrome 28 26
1364 c ADM012 Adams-Oliver Syndrome 6 26
1365 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 26
1366 c DMN019 Diamond-Blackfan Anemia 4 26
1367 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 26
1368 P RNL123 Renal Agenesis, Bilateral 25
1369 c MRG015 Meier-Gorlin Syndrome 7 25
1370 CHR212 Chromosome 18p Duplication 25
1371 CLN022 Colonic Atresia 25
1372 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
1373 BSL045 Basel-Vanagaite-Smirin-Yosef Syndrome 25
1374 HGH023 High Bone Mass Osteogenesis Imperfecta 25
1375 c HYD040 Hydrolethalus Syndrome 2 25
1376 NNG001 Non-Gestational Choriocarcinoma 25
1377 P SYN064 Syndromic X-Linked Intellectual Disability 25
1378 c CFF006 Coffin-Siris Syndrome 5 25
1379 c DNC007 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 25
1380 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 25
1381 GNT043 Genitopalatocardiac Syndrome 25
1382 CHR252 Chromosome 5p Duplication 25
1383 48X002 48,xxxy Syndrome 25
1384 CHR457 Chromosome 17p13.1 Deletion Syndrome 25
1385 c CLC055 Cole-Carpenter Syndrome 2 25
1386 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 25
1387 CNG506 Congenital Amyoplasia 25
1388 DPL009 Duplication of the Pituitary Gland 25
1389 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 25
1390 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
1391 ISL089 Isolated Scaphocephaly 24
1392 c DFN243 Deafness, Autosomal Recessive 88 24
1393 MCR253 Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma 24
1394 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 24
1395 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 24
1396 c DFN240 Deafness, Autosomal Recessive 96 24
1397 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 24
1398 ADD006 Adducted Thumbs Syndrome 24
1399 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 24
1400 P UNP013 Uniparental Disomy of Chromosome 1 24
1401 CRB211 Cerebral Cortical Dysplasia 24
1402 c JBR047 Joubert Syndrome 35 24
1403 c KLF005 Kleefstra Syndrome 2 24
1404 c LKD028 Leukodystrophy, Hypomyelinating, 15 24
1405 STN006 Steinfeld Syndrome 24
1406 c LPR011 Leopard Syndrome 2 24
1407 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 24
1408 c DFN361 Deafness, Autosomal Recessive 106 24
1409 c ORF047 Orofacial Cleft 15 24
1410 P PHC014 Phocomelia 24
1411 c OST170 Osteogenesis Imperfecta, Type Xix 24
1412 OCL070 Oculopalatocerebral Syndrome 24
1413 c CTR182 Cataract 23, Multiple Types 24
1414 BRN129 Branchial Cleft Anomalies 24
1415 HRT018 Heart-Hand Syndrome, Slovenian Type 23
1416 c CLC056 Cole-Carpenter Syndrome 1 23
1417 PTR034 Paternal Uniparental Disomy 23
1418 c DFN147 Deafness, X-Linked 4 23
1419 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 23
1420 RDL022 Radial Hemimelia 23
1421 c EPP026 Epiphyseal Dysplasia, Multiple, 7 23
1422 OST117 Osteomesopyknosis 23
1423 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 23
1424 c LYM147 Lymphatic Malformation 3 23
1425 c DMN029 Diamond-Blackfan Anemia 11 23
1426 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 23
1427 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 23
1428 c THR096 Three M Syndrome 3 23
1429 c ATR071 Atrioventricular Septal Defect 5 23
1430 c DPH016 Diaphragmatic Hernia 3 23
1431 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 23
1432 c JVN025 Juvenile Primary Osteoporosis 23
1433 c DFN156 Deafness, Autosomal Dominant 43 23
1434 P ERL043 Early-Onset Nuclear Cataract 23
1435 c INT005 Intermediate Malignant Teratoma 22
1436 PRT131 Partial Trisomy Distal 4q 22
1437 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 22
1438 P PLM064 Pulmonary Sequestration 22
1439 8P2002 8p23.1 Duplication Syndrome 22
1440 PTL010 Patella Aplasia-Hypoplasia 22
1441 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 22
1442 DPR014 Diprosopus 22
1443 JNT001 Joint Laxity, Familial 22
1444 c ORF025 Orofacial Cleft 6 22
1445 THY106 Thyroglossal Duct Cyst, Familial 22
1446 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 22
1447 TTR016 Tetra-Amelia Syndrome 22
1448 ORF053 Orofacial Clefting Syndrome 22
1449 c CTR187 Cataract 48 22
1450 c MTR077 Mitral Valve Prolapse 2 22
1451 c CTR169 Cataract 29 22
1452 c URF002 Urofacial Syndrome 2 22
1453 NTH002 Nathalie Syndrome 22
1454 c CRN216 Craniosynostosis 5 22
1455 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 22
1456 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 22
1457 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 22
1458 c SNG012 Singleton-Merten Syndrome 2 22
1459 P BFD001 Bifid Nose 22
1460 6QT002 6q Terminal Deletion Syndrome 21
1461 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 21
1462 c STC011 Stickler Syndrome, Type V 21
1463 c GLC054 Glaucoma 3, Primary Congenital, D 21
1464 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 21
1465 BLT020 Bilateral Multicystic Dysplastic Kidney 21
1466 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 21
1467 ILL003 Illum Syndrome 21
1468 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1469 MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21
1470 c DFN161 Deafness, Autosomal Dominant 53 21
1471 c OST176 Osteogenesis Imperfecta, Type Xx 21
1472 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1473 c HLP021 Holoprosencephaly 6 21
1474 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 21
1475 c DMN028 Diamond-Blackfan Anemia 12 21
1476 c HRN024 Horner Syndrome, Congenital 21
1477 c DFN276 Deafness, X-Linked 6 21
1478 CHR241 Chromosome 2q24 Microdeletion Syndrome 21
1479 MTR027 Mitral Atresia 21
1480 ORB019 Orbital Margin, Hypoplasia of 21
1481 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 21
1482 ERM001 Ermine Phenotype 21
1483 VNF001 Vein of Galen Aneurysm 21
1484 c ANT087 Anterior Segment Dysgenesis 6 21
1485 FTL018 Fetal Indomethacin Syndrome 21
1486 MTC100 Metacarpal 4-5 Fusion 20
1487 c RNL099 Renal Hypodysplasia/aplasia 2 20
1488 PRG122 Prognathism, Mandibular 20
1489 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 20
1490 c DFN370 Deafness, X-Linked 7 20
1491 c GLC089 Glaucoma 3, Primary Congenital, E 20
1492 QDR002 Quadricuspid Aortic Valve 20
1493 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 20
1494 P CHR200 Chromosome 16 Trisomy 20
1495 FMR013 Femoral Agenesis/hypoplasia 20
1496 MZB001 Mazabraud Syndrome 20
1497 XLN240 X-Linked Otopalatodigital Spectrum Disorders 20
1498 TBT001 Tabatznik Syndrome 19
1499 MSC017 Mosaic Trisomy 22 19
1500 c CHR227 Chromosome 20 Trisomy 19
1501 VGN031 Vaginal Atresia 19
1502 CHR612 Chromosome 15q14 Deletion Syndrome 19
1503 c DFN281 Deafness, Autosomal Recessive 103 19
1504 MYC060 Mycophenolate Mofetil Embryopathy 19
1505 c DFN174 Deafness, Autosomal Recessive 44 19
1506 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 19
1507 UNL014 Unilateral Multicystic Dysplastic Kidney 19
1508 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 19
1509 SMM003 Summitt Syndrome 19
1510 CHR182 Chromosome 10p Duplication 19
1511 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 19
1512 BMR004 Beemer Lethal Malformation Syndrome 19
1513 19P001 19p13.12 Microdeletion Syndrome 19
1514 c MSC139 Mosaic Variegated Aneuploidy Syndrome 3 19
1515 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1516 PRR029 Pierre Robin Syndrome and Oligodactyly 19
1517 PLD002 Pilodental Dysplasia with Refractive Errors 19
1518 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 19
1519 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 19
1520 1Q4001 1q44 Microdeletion Syndrome 19
1521 c PRR033 Perrault Syndrome 6 19
1522 OCL057 Oculotrichodysplasia 19
1523 c SYN082 Syndromic X-Linked Intellectual Disability 14 19
1524 DST044 Distal Trisomy 14q 19
1525 DST045 Distal Trisomy 6p 19
1526 P CNG070 Congenital Dislocation of the Patella 19
1527 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 19
1528 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 19
1529 PCH004 Pachygyria, Frontotemporal 19
1530 HMF007 Hemifacial Hyperplasia with Strabismus 18
1531 LMB056 Lumbosacral Spina Bifida Cystica 18
1532 STT008 Steatocystoma Multiplex with Natal Teeth 18
1533 MYL044 Myelocystocele 18
1534 PYK001 Pyknoachondrogenesis 18
1535 SCL051 Scalp Defects and Postaxial Polydactyly 18
1536 RDL030 Radial-Renal Syndrome 18
1537 c DFN242 Deafness, Autosomal Recessive 70 18
1538 BND017 Bone Dysplasia, Lethal, Holmgren Type 18
1539 CMP069 Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome 18
1540 DNR006 Duane Retraction Syndrome 3 with or Without Deafness 18
1541 HYD021 Hydrocephalus Obesity Hypogonadism 18
1542 SMS004 Simosa Craniofacial Syndrome 18
1543 MSM018 Mesomelic Limb Shortening and Bowing 18
1544 MSC081 Mosaic Trisomy 15 18
1545 c PTS018 Ptosis, Hereditary Congenital 1 18
1546 c TRN062 Transient Neonatal Myasthenia Gravis 18
1547 APH015 Aphalangy with Hemivertebrae 18
1548 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 18
1549 c ORF050 Orofacial Cleft 2 18
1550 TRN017 Transient Neonatal Neutropenia 18
1551 ANR043 Aniridia and Absent Patella 18
1552 PLY088 Polyvalvular Heart Disease Syndrome 18
1553 c OVR118 Ovarian Dysgenesis 6 18
1554 c PLY178 Polydactyly, Postaxial, Type A8 18
1555 c CHR180 Chromosome 10, Uniparental Disomy 18
1556 CNG347 Congenital Tricuspid Stenosis 18
1557 MCR303 Macrosomia with Microphthalmia, Lethal 18
1558 c ORF049 Orofacial Cleft 3 17
1559 MTH070 Methimazole Antenatal Exposure 17
1560 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 17
1561 7P2001 7p22.1 Microduplication Syndrome 17
1562 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
1563 P ATS469 Autosomal Monosomy 17
1564 c PRG096 Pregnancy Loss, Recurrent 2 17
1565 PRM334 Primary Bone Dysplasia with Increased Bone Density 17
1566 c PRG093 Pregnancy Loss, Recurrent 3 17
1567 TBL027 Tubulinopathy-Associated Dysgyria 17
1568 HND012 Handigodu Joint Disease 17
1569 c SYN040 Synpolydactyly 3 17
1570 RTF001 Retiform Hemangioendothelioma 17
1571 PNH003 Pinheiro Freire-Maia Miranda Syndrome 17
1572 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 17
1573 AMN013 Aminopterin/methotrexate Embryofetopathy 17
1574 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 17
1575 HRS037 Hirschsprung Disease with Type D Brachydactyly 17
1576 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 17
1577 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 17
1578 DST069 Distal Monosomy 12q 17
1579 c DFN335 Deafness, Autosomal Dominant 71 17
1580 c PGT006 Paget Disease of Bone 4 17
1581 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 17
1582 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 17
1583 c MTR063 Maternal Uniparental Disomy of Chromosome 2 17
1584 c PLY184 Polydactyly, Postaxial, Type A10 17
1585 LSS034 Lissencephaly Type Iii and Bone Dysplasia 17
1586 14Q001 14q12 Microdeletion Syndrome 16
1587 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
1588 c BRC035 Brachydactyly Type A5 16
1589 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 16
1590 c CTR128 Cataract 33 16
1591 CNT114 Central Nervous System Malformation 16
1592 c NNS019 Nonsyndromic Holoprosencephaly 16
1593 c PLY101 Polydactyly, Postaxial, Type A6 16
1594 c PLY163 Polydactyly, Postaxial, Type A2 16
1595 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 16
1596 c UNP011 Uniparental Disomy of Chromosome 14 16
1597 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 16
1598 49X005 49, Xxxyy Syndrome 16
1599 VLF001 Velofacioskeletal Syndrome 16
1600 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 16
1601 8Q1001 8q12 Microduplication Syndrome 16
1602 FRS011 First Branchial Cleft Anomaly 16
1603 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 16
1604 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 16
1605 TRN013 Transient Neonatal Thrombocytopenia 16
1606 c PTS010 Ptosis, Hereditary Congenital 2 16
1607 ECT023 Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 16
1608 CMP077 Composite Hemangioendothelioma 16
1609 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 16
1610 BWN005 Bowing of Long Bones Congenital 16
1611 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 16
1612 NDL022 Nodular Neuronal Heterotopia 16
1613 MCR078 Microphthalmia Microtia Fetal Akinesia 16
1614 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 16
1615 c CNT108 Central Polydactyly 16
1616 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 16
1617 CNG067 Congenital Cystic Eye 16
1618 HYP727 Hypoglossia with Situs Inversus 16
1619 DST035 Distal Trisomy 18q 16
1620 c ISC010 Isochromosome Yp 16
1621 ERL040 Early-Onset Sutural Cataract 15
1622 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 15
1623 20P002 20p13 Microdeletion Syndrome 15
1624 c CNG433 Congenital Cornea Plana 15
1625 c BLN020 Blount Disease, Infantile 15
1626 ORL024 Oral and Digital Anomalies with Ichthyosis 15
1627 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
1628 ERL045 Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 15
1629 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 15
1630 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 15
1631 DST038 Distal Monosomy 7q36 15
1632 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1633 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 15
1634 49X004 49,xyyyy Syndrome 15
1635 SBP005 Subpulmonary Stenosis 15
1636 SBM006 Submucosal Cleft Palate 15
1637 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 15
1638 c UNP008 Uniparental Disomy of Chromosome 15 15
1639 CNS012 Cono-Spondylar Dysplasia 15
1640 c ORF029 Orofacial Cleft 13 15
1641 P ISL029 Isolated Anorectal Malformation 15
1642 DST082 Distal Trisomy 10q 15
1643 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 15
1644 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
1645 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 15
1646 CMP079 Complete Septate Uterus 15
1647 VNB001 Van Benthem-Driessen-Hanveld Syndrome 15
1648 PHK006 Phakomatosis Pigmentokeratotica 14
1649 FTL026 Fetal Parvovirus Syndrome 14
1650 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 14
1651 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 14
1652 RCT033 Rectal Duplication 14
1653 ANR045 Aneurysm of Interventricular Septum 14
1654 DRM038 Dermotrichic Syndrome 14
1655 6P2001 6p22 Microdeletion Syndrome 14
1656 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 14
1657 c PLY054 Polydactyly, Postaxial, Type A4 14
1658 c CSK002 Cask-Related Intellectual Disability 14
1659 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 14
1660 DST055 Distal 22q11.2 Microduplication Syndrome 14
1661 CMP098 Complex Vascular Malformation with Associated Anomalies 14
1662 MNS013 Monosomy 13q34 14
1663 BNK001 Banki Syndrome 14
1664 PRB002 Proboscis Lateralis 14
1665 PHL009 Phalangeal Microgeodic Syndrome 14
1666 CLB032 Coloboma of Macula and Skeletal Anomalies 14
1667 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1668 RNL109 Renal Hypoplasia, Bilateral 14
1669 PST111 Posterior Fossa Malformation 14
1670 ARC020 Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome 14
1671 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 14
1672 GRH002 Graham Boyle Troxell Syndrome 14
1673 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
1674 PRT165 Partial Deletion of the Short Arm of Chromosome 7 14
1675 20Q001 20q13.33 Microdeletion Syndrome 14
1676 PRM319 Primary Bone Dysplasia 13
1677 CCN010 Cocaine Embryofetopathy 13
1678 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 13
1679 PRM238 Primary Intralymphatic Angioendothelioma 13
1680 URC012 Urachal Sinus 13
1681 ISL111 Isolated Arrhinia 13
1682 URC013 Urachal Diverticulum 13
1683 c ORF024 Orofacial Cleft 9 13
1684 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 13
1685 CMP022 Camptodactyly Taurinuria 13
1686 CNG241 Congenital Laryngeal Palsy 13
1687 CNG235 Congenital Microgastria 13
1688 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 13
1689 PHN013 Phenobarbital Antenatal Exposure 13
1690 RRC028 Rare Congenital Non-Syndromic Heart Malformation 13
1691 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 13
1692 c CMP100 Campomelic Dysplasia and Related Disorders 13
1693 MDR001 Medeira-Dennis-Donnai Syndrome 13
1694 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 13
1695 c MTR057 Maternal Uniparental Disomy of Chromosome X 13
1696 CRN310 Cranial Malformation 13
1697 DST079 Distal Trisomy 5q 13
1698 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 13
1699 c UNP003 Uniparental Disomy of Chromosome 11 13
1700 CNT086 Centripetalis Recessive Dystrophic Epidermolysis Bullosa 13
1701 CNG519 Congenital Gerbode Defect 12
1702 ART097 Aorto-Left Ventricular Tunnel 12
1703 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 12
1704 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1705 UNL006 Unilateral Focal Polymicrogyria 12
1706 XQ1001 Xq12-Q13.3 Duplication Syndrome 12
1707 PRT213 Partial Duplication of Chromosome 19 12
1708 P PCH020 Pachyonychia Congenita, Autosomal Recessive 12
1709 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 12
1710 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 12
1711 ANR041 Aniridia-Intellectual Disability Syndrome 12
1712 LPM011 Lip, Median Nodule of Upper 12
1713 ANN018 Anonychia, Total, with Microcephaly 12
1714 CLF040 Cleft Lip-Retinopathy Syndrome 12
1715 THR083 Third Branchial Cleft Anomaly 12
1716 c OLV006 Olivopontocerebellar Atrophy Ii, Autosomal Recessive 12
1717 c BFD005 Bifid Nose, Autosomal Recessive 12
1718 ANM075 Anomalous Aortic Origin of Coronary Artery 12
1719 ERL036 Early-Onset Posterior Subcapsular Cataract 12
1720 DST071 Distal Monosomy 19p13.3 12
1721 XLN145 X-Linked Intellectual Disability, Pai Type 12
1722 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 12
1723 CMP084 Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome 12
1724 c EZH001 Ezh2-Related Overgrowth 12
1725 DYS208 Dysostosis with Brachydactyly 12
1726 PRP103 Peripapillary Staphyloma 12
1727 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 12
1728 P ISL045 Isolated Focal Cortical Dysplasia Type I 11
1729 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 11
1730 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 11
1731 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 11
1732 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 11
1733 c RRC022 Rare Chromosomal Anomaly 11
1734 MGC005 Megacystis-Megaureter Syndrome 11
1735 MTR084 Maternal Hyperthermia-Induced Birth Defects 11
1736 c UNP004 Uniparental Disomy of Chromosome 2 11
1737 FRN052 Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome 11
1738 INV014 Inverse Klippel-Trenaunay Syndrome 11
1739 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 11
1740 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 11
1741 ANR037 Aneurysm or Dilatation of Ascending Aorta 11
1742 PRT186 Partial Duplication of the Long Arm of Chromosome X 11
1743 DPL010 Duplication of the Esophagus 11
1744 PRT185 Partial Deletion of the Long Arm of Chromosome 13 11
1745 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 11
1746 c BFD004 Bifid Nose, Autosomal Dominant 10
1747 PRT163 Partial Deletion of the Short Arm of Chromosome 5 10
1748 MSC087 Mosaic Trisomy 4 10
1749 MRN008 Marin-Amat Syndrome 10
1750 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 10
1751 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 10
1752 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 10
1753 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 10
1754 c MCR185 Macrodactyly of Toes 10
1755 c CNG257 Congenital Pulmonary Sequestration 10
1756 c GLC032 Glaucoma, Hereditary 10
1757 CNG575 Congenital Joint Dislocations 10
1758 CNG244 Congenital Laryngeal Cyst 10
1759 ATS453 Autosomal Anomaly 10
1760 16P011 16p12.1p12.3 Triplication Syndrome 10
1761 ERL027 Early-Onset Non-Syndromic Cataract 10
1762 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 10
1763 PRM246 Primary Tethered Cord Syndrome 10
1764 RNL107 Renal Dysplasia, Bilateral 10
1765 P RRN017 Rare Intellectual Disability 10
1766 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 10
1767 c PTR015 Paternal Uniparental Disomy of Chromosome X 10
1768 MCR184 Macrodactyly of Fingers 10
1769 PRT160 Partial Deletion of the Short Arm of Chromosome 4 10
1770 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 10
1771 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
1772 c PTR019 Paternal Uniparental Disomy of Chromosome 5 9
1773 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 9
1774 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 9
1775 c ISC017 Isca2-Related Mitochondrial Disorder 9
1776 c RRR004 Rare Arteriovenous Malformation 9
1777 c AML063 Amelogenesis Imperfecta Type 2a1 9
1778 PRT162 Partial Deletion of the Short Arm of Chromosome 6 9
1779 PRT153 Partial Deletion of Chromosome 11 9
1780 c RRD039 Rare Dystonia 9
1781 SYN143 Syndromic Telecanthus 9
1782 ACC010 Accessory Tricuspid Valve Tissue 9
1783 RRV006 Rare Venous Malformation 9
1784 PRT106 Partial Duplication of the Short Arm of Chromosome X 9
1785 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 9
1786 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
1787 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
1788 PRT219 Partial Duplication of the Short Arm of Chromosome 6 9
1789 INV017 Inverse Marcus-Gunn Phenomenon 9
1790 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
1791 PRT202 Partial Duplication of the Long Arm of Chromosome 6 9
1792 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 9
1793 CNG327 Congenital Epstein-Barr Virus Infection 9
1794 c SCN085 Secondary Ectropion 9
1795 PRT154 Partial Deletion of Chromosome 18 9
1796 DST078 Distal Trisomy 6q 9
1797 DVL026 Developmental Defect of the Eye 9
1798 PRT171 Partial Deletion of the Short Arm of Chromosome 18 9
1799 OMP003 Omphalomesenteric Cyst 8
1800 PRT228 Partial Duplication of Chromosome 1 8
1801 P PRT196 Partial Trisomy of the Long Arm of Chromosome 16 8
1802 ESP045 Esophageal Malformation 8
1803 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 8
1804 c ISC013 Isochromosomy Yq 8
1805 c PRT205 Partial Trisomy of the Long Arm of Chromosome 5 8
1806 PRT241 Partial Deletion of the Long Arm of Chromosome 20 8
1807 DST057 Distal Trisomy 19q 8
1808 c CNG405 Congenital Pulmonary Airway Malformation Type 4 8
1809 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 8
1810 P RRC010 Rare Capillary Malformation 8
1811 DGS009 Digestive Tract Malformation 8
1812 P PRM337 Primary Osteolysis 8
1813 RNL108 Renal Hypoplasia, Unilateral 8
1814 SYN027 Syngnathia Cleft Palate 8
1815 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
1816 TRS020 Tarsal Kink Syndrome 8
1817 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 8
1818 P PRT183 Partial Monosomy of the Long Arm of Chromosome 10 8
1819 c KRN003 Kernicterus Due to Isoimmunization 8
1820 PRT199 Partial Duplication of the Long Arm of Chromosome 13 8
1821 P RBN007 Rubinstein Taybi Like Syndrome 8
1822 PRT152 Partial Deletion of Chromosome 10 8
1823 NNS054 Non-Syndromic Postaxial Polydactyly 8
1824 RNL106 Renal Dysplasia, Unilateral 8
1825 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 8
1826 PLM023 Pulmonary Artery Choriocarcinoma 7
1827 MXL013 Maxillary Arteriovenous Malformation 7
1828 P ISC012 Isochromosome Y 7
1829 NNS059 Non-Syndromic Limb Reduction Defect 7
1830 P NNS070 Non-Syndromic Cerebral Malformation 7
1831 PLY086 Polyrrhinia 7
1832 PRT235 Partial Deletion of the Long Arm of Chromosome 14 7
1833 ISL108 Isolated Splenogonadal Fusion 7
1834 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 7
1835 PRT149 Partial Deletion of Chromosome 7 7
1836 c PRT190 Partial Trisomy of the Long Arm of Chromosome 18 7
1837 PRT217 Partial Duplication of the Short Arm of Chromosome 4 7
1838 RDL020 Radio-Ulnar Synostosis, Bilateral 7
1839 c PTR023 Paternal Uniparental Disomy of Chromosome 13 7
1840 P PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
1841 PRT177 Partial Deletion of the Long Arm of Chromosome 4 7
1842 PRT244 Partial Deletion of the Short Arm of Chromosome 12 7
1843 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 7
1844 ISL023 Isolated Congenital Auditory Ossicle Malformation 6
1845 P TSS001 Tessier Number 5 Facial Cleft 6
1846 14Q003 14q11.2 Microduplication Syndrome 6
1847 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 6
1848 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
1849 c MTR065 Maternal Uniparental Disomy of Chromosome 21 6
1850 SYN155 Syndromic Anorectal Malformation 6
1851 KRS001 Krauss Herman Holmes Syndrome 6
1852 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
1853 12Q001 12q15q21.1 Microdeletion Syndrome 6
1854 DST074 Distal Trisomy 20q 6
1855 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1856 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1857 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1858 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1859 c PRM318 Primary Short Bowel Syndrome 6
1860 IDP088 Idiopathic Isolated Micropenis 6
1861 LPT012 Leptomyelolipoma 6
1862 PRM160 Premature Closure of the Arterial Duct 6
1863 c NNS047 Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration 6
1864 HYP850 Hypoglossia/aglossia 6
1865 PRT222 Partial Duplication of Chromosome 8 6
1866 PRT229 Partial Duplication of Chromosome 2 6
1867 PHK010 Phakomatosis Spilorosea 6
1868 TBL020 Tubular Duplication of the Esophagus 6
1869 NSN002 Nose and Cavum Anomaly 6
1870 c RRD061 Rare Disorder with Ptosis 6
1871 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 5
1872 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 5
1873 EXT043 External Auditory Canal Aplasia/hypoplasia 5
1874 CLB023 Coloboma of Inferior Eyelid 5
1875 PRT141 Partial Deletion of Chromosome 1 5
1876 PRT147 Partial Deletion of Chromosome 9 5
1877 PRT176 Partial Deletion of the Long Arm of Chromosome 3 5
1878 PRT189 Partial Duplication of the Long Arm of Chromosome 19 5
1879 PRT192 Partial Duplication of the Long Arm of Chromosome 22 5
1880 PRT211 Partial Duplication of the Short Arm of Chromosome 11 5
1881 DST066 Distal Monosomy 20q 5
1882 DST073 Distal Monosomy 7p 5
1883 DST083 Distal Trisomy 9q 5
1884 PRT091 Partial Cryptophthalmia 5
1885 LNS008 Lens Position Anomaly 5
1886 CNG602 Congenital Anomaly of the Great Arteries 5
1887 c LRP007 Lrp5-Related Primary Osteoporosis 5
1888 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 5
1889 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 5
1890 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
1891 PRM320 Primary Bone Dysplasia with Micromelia 5
1892 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 5
1893 DRG019 Drug-Related Renal Tubular Dysgenesis 5
1894 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
1895 DST067 Distal Monosomy 14q 5
1896 PRM332 Primary Bone Dysplasia with Defective Bone Mineralization 5
1897 PRM333 Primary Bone Dysplasia with Decreased Bone Density 5
1898 NNT057 Neonatal Osteosclerotic Dysplasia 5
1899 PRM335 Primary Bone Dysplasia with Multiple Joint Dislocations 5
1900 PRM336 Primary Bone Dysplasia with Disorganized Development of Skeletal Components 5
1901 SLN010 Slender Bone Dysplasia 5
1902 c TTL014 Total Autosomal Monosomy 5
1903 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
1904 PRR038 Pierre Robin Syndrome Associated with Bone Disease 5
1905 FCL034 Facial Dermoid Cyst 5
1906 PRT168 Partial Deletion of the Short Arm of Chromosome 16 5
1907 PRT191 Partial Duplication of the Long Arm of Chromosome 17 5
1908 PRT195 Partial Duplication of the Long Arm of Chromosome 8 5
1909 PRT198 Partial Duplication of the Long Arm of Chromosome 14 5
1910 PRT240 Partial Deletion of the Long Arm of Chromosome 19 5
1911 CNG571 Congenital Disorder of Glycosylation-Related Bone Disorder 5
1912 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1913 STR107 Sterol Biosynthesis Disorder 5
1914 DST070 Distal Monosomy 4q 5
1915 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1916 SYN144 Syndromic Outer Canthal Malposition 5
1917 CRN313 Corneodysgenesis 5
1918 c CRN093 Craniosynostosis Autosomal Dominant 5
1919 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1920 ERL060 Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia 5
1921 OPN003 Open Iniencephaly 4
1922 NNS046 Non-Syndromic Urogenital Tract Malformation 4
1923 LWS004 Low Isolated Anorectal Malformation 4
1924 c TSS003 Tessier Number 6 Facial Cleft 4
1925 MDN007 Median Cleft Lip/mandibule 4
1926 PRT142 Partial Deletion of Chromosome 4 4
1927 PRT157 Partial Deletion of Chromosome 19 4
1928 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
1929 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
1930 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 4
1931 2P1003 2p13.2 Microdeletion Syndrome 4
1932 PRT245 Partial Deletion of Chromosome 12 4
1933 CNG316 Congenital Vertical Talus, Bilateral 4
1934 MCR188 Macrodactyly of Fingers, Unilateral 4
1935 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 4
1936 ARX004 Arx-Related Encephalopathy-Brain Malformation Spectrum 4
1937 4Q2002 4q25 Proximal Deletion Syndrome 4
1938 RRC020 Rare Congenital Anomaly of Ventricular Septum 4
1939 RSP024 Respiratory or Mediastinal Malformation 4
1940 NND007 Non-Distal Monosomy 12q 4
1941 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1942 RRP026 Rare Palpebral Disorder 4
1943 SYN158 Syndrome with a Central Nervous System Malformation As Major Feature 4
1944 MLT174 Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome 4
1945 MLT175 Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability 4
1946 c RRD045 Rare Disorder with Ectropion 4
1947 c BLT012 Bilateral Renal Agenesis Dominant Type 4
1948 NSL027 Nasal Dorsum Fistula 4
1949 PNN004 Pinnae Fistula or Cyst 4
1950 c PRT188 Partial Trisomy of the Long Arm of Chromosome 20 4
1951 PRT210 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 4
1952 PRT224 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 4
1953 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
1954 PRT247 Partial Duplication of the Short Arm of Chromosome 19 4
1955 DYS209 Dysostosis with Predominant Vertebral and Costal Involvement 4
1956 ABN010 Abnormal Number of Coronary Ostia 4
1957 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 4
1958 MCR377 Microblepharon-Ablephara Syndrome 4
1959 LNS009 Lens Size Anomaly 4
1960 OTH025 Other Syndrome with Lissencephaly As a Major Feature 4
1961 c DDX001 Ddx3x-Related Intellectual Disability 4
1962 c GLC033 Glaucoma, Hereditary Adult Type 1a 4
1963 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 4
1964 c RRD046 Rare Disorder with Entropion 4
1965 HGH040 High Isolated Anorectal Malformation 4
1966 ISL107 Isolated Congenital Syngnathia 4
1967 PRT156 Partial Deletion of Chromosome 20 4
1968 c XCH002 X Chromosome Number Anomaly 4
1969 MLF006 Malformation of the Neurenteric Canal, Spinal Cord and Column 4
1970 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 4
1971 HMZ005 Homozygous 2p21 Microdeletion Syndrome 4
1972 CNG576 Congenital Deformities of Fingers 4
1973 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 4
1974 CNG315 Congenital Vertical Talus, Unilateral 4
1975 MCR189 Macrodactyly of Toes, Bilateral 4
1976 OVR126 Overgrowth or Tall Stature Syndrome with Skeletal Involvement 4
1977 GNT161 Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy 4
1978 PNC130 Pancreatic Agenesis-Holoprosencephaly Syndrome 4
1979 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
1980 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
1981 SYN156 Syndrome with Limb Malformations As a Major Feature 4
1982 NNS064 Non-Syndromic Central Nervous System Malformation 4
1983 SYN159 Syndromic Diaphragmatic or Abdominal Wall Malformation 4
1984 SYN162 Syndromic Esophageal Malformation 4
1985 c INT350 Intermediate Isolated Anorectal Malformation 3
1986 DYS202 Dysostosis with Limb Anomaly As a Major Feature 3
1987 TRC124 True Congenital Shoulder Dislocation 3
1988 ISL126 Isolated Iridoschisis 3
1989 ISL127 Isolated Blepharochalasis 3
1990 RRT021 Rare Otorhinolaryngological Malformation 3
1991 CNG341 Congenital Anomaly of the Coronary Sinus 3
1992 MSM021 Mesomelic and Rhizo-Mesomelic Dysplasia 3
1993 MTR068 Mitral Valve Agenesis 3
1994 LNS007 Lens Shape Anomaly 3
1995 SYN163 Syndromic Gastroduodenal Malformation 3
1996 RRV004 Rare Vaginal Malformation 3
1997 NNS051 Non-Syndromic Urogenital Tract Malformation of Male 3
1998 PRR037 Pierre Robin Syndrome Associated with a Chromosomal Anomaly 3
1999 TRT023 Teratogenic Pierre Robin Syndrome 3
2000 RRS007 Rare Syndrome with Cardiac Malformations 3
2001 PRL049 Paralytic Facial Malformation 3
2002 PRT214 Partial Trisomy/tetrasomy of Chromosome 18 3
2003 PRT221 Partial Trisomy/tetrasomy of Chromosome 9 3
2004 PRT232 Partial Trisomy/tetrasomy of Chromosome 5 3
2005 OTH014 Other Syndrome with a Central Nervous System Malformation As Major Feature 3
2006 CNT113 Central Nervous System Cystic Malformation 3
2007 INF180 Infantile Hemangioma of Rare Localization 3
2008 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
2009 CNG317 Congenital Genu Flexum 3
2010 CNG321 Congenital Elbow Dislocation, Bilateral 3
2011 CNG322 Congenital Elbow Dislocation, Unilateral 3
2012 RRC017 Rare Capillary Malformation with Associated Anomalies 3
2013 ISL152 Isolated Congenital Hypoglossia 3
2014 ATS455 Autosomal Uniparental Disomy 3
2015 MLF007 Malformation Syndrome with Hamartosis 3
2016 CRN315 Cranial Nerve and Nuclear Aplasia 3
2017 NNS063 Non-Syndromic Respiratory or Mediastinal Malformation 3
2018 SYN161 Syndromic Visceral Malformation 3
2019 RRD017 Rare Developmental Defect with Connective Tissue Involvement 3
2020 RRH012 Rare Head and Neck Malformation 3
2021 TXC022 Toxic or Drug-Related Embryofetopathy 3
2022 GLP005 Glioependymal/ependymal Cyst 3
2023 RRD038 Rare Disorder with Hirschsprung Disease As a Major Feature 3
2024 PLM194 Pulmonary Artery or Pulmonary Branch Anomaly 3
2025 NNS050 Non-Syndromic Urogenital Tract Malformation of Female 2
2026 XCH003 X Chromosome Number Anomaly with Female Phenotype 2
2027 NNS053 Non Syndromic Limb Overgrowth 2
2028 PRT248 Partial Autosomal Trisomy/tetrasomy 2
2029 P TST021 Testicular Germ Cell Tumor 61
2030 c TST046 Testicular Germ Cell Tumor 1 29
2031 UND001 Undifferentiated Embryonal Sarcoma of the Liver 29
2032 P MDL005 Medulloblastoma 77
2033 c ADL023 Adult Medulloblastoma 44
2034 SPR008 Supratentorial Primitive Neuroectodermal Tumor 43
2035 GRC001 Gracile Syndrome 40
2036 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
2037 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
2038 CHL048 Childhood Teratocarcinoma of the Testis 7
2039 P NNN008 Noonan Syndrome 1 76
2040 c TBR025 Tuberous Sclerosis 1 76
2041 PHN003 Phenylketonuria 75
2042 P NRB001 Neuroblastoma 71
2043 c TBR026 Tuberous Sclerosis 2 71
2044 P CRD224 Cardiofaciocutaneous Syndrome 1 70
2045 P CRN037 Craniosynostosis 68
2046 GRG001 Greig Cephalopolysyndactyly Syndrome 67
2047 c MCL062 Mucolipidosis Ii Alpha/beta 66
2048 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
2049 AND002 Androgen Insensitivity Syndrome 66
2050 P DYS007 Dyskeratosis Congenita 66
2051 ART001 Arterial Tortuosity Syndrome 66
2052 P TRC072 Treacher Collins Syndrome 1 66
2053 P MCK013 Meckel Syndrome, Type 1 65
2054 P RTH006 Rothmund-Thomson Syndrome, Type 2 64
2055 PLL001 Pallister-Hall Syndrome 64
2056 P CNG001 Congenital Myasthenic Syndrome 64
2057 P CFF008 Coffin-Siris Syndrome 1 62
2058 ALS001 Alstrom Syndrome 62
2059 P CRN108 Cranioectodermal Dysplasia 1 62
2060 P THN009 Thanatophoric Dysplasia, Type I 62
2061 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 62
2062 c BRD010 Bardet-Biedl Syndrome 1 61
2063 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
2064 ART141 Arteriovenous Malformations of the Brain 61
2065 P DNT020 Dent Disease 1 60
2066 CHR619 Chromosome 2q35 Duplication Syndrome 60
2067 PND002 Pendred Syndrome 60
2068 CRT002 Cartilage-Hair Hypoplasia 60
2069 P VNT002 Ventricular Septal Defect 60
2070 KLP010 Klippel-Trenaunay-Weber Syndrome 60
2071 P PGT001 Paget's Disease of Bone 60
2072 P WLF004 Wolfram Syndrome 59
2073 HRL003 Hurler Syndrome 59
2074 MNK003 Muenke Syndrome 59
2075 DST005 Diastrophic Dysplasia 59
2076 MCK005 Mckusick-Kaufman Syndrome 58
2077 P MLT007 Multiple Epiphyseal Dysplasia 58
2078 PSD012 Pseudoachondroplasia 58
2079 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 58
2080 MCS006 Macs Syndrome 58
2081 P PLY006 Polydactyly 58
2082 PLM070 Pulmonic Stenosis 57
2083 TTL012 Total Anomalous Pulmonary Venous Return 1 57
2084 ARS001 Aarskog-Scott Syndrome 57
2085 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57
2086 DNY001 Denys-Drash Syndrome 57
2087 P STC001 Stickler Syndrome 57
2088 WLF002 Wolf-Hirschhorn Syndrome 56
2089 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 56
2090 PSD014 Pseudopseudohypoparathyroidism 56
2091 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56
2092 DBL002 Double Outlet Right Ventricle 56
2093 DNN002 Donnai-Barrow Syndrome 56
2094 c KLF004 Kleefstra Syndrome 1 55
2095 P WLL002 Weill-Marchesani Syndrome 55
2096 DXT001 Dextrocardia 55
2097 SMT008 Smith-Magenis Syndrome 55
2098 P RHZ001 Rhizomelic Chondrodysplasia Punctata 54
2099 PRN019 Perinatal Necrotizing Enterocolitis 54
2100 P SLV001 Silver-Russell Syndrome 54
2101 P JNC001 Junctional Epidermolysis Bullosa 54
2102 P ICH004 Ichthyosis 54
2103 P SCL048 Sclerosteosis 53
2104 c LSS005 Lissencephaly 1 53
2105 OST044 Osteoglophonic Dysplasia 53
2106 c OST164 Osteoporosis, Juvenile 53
2107 FRS002 Frasier Syndrome 53
2108 CLB010 Coloboma of Macula 53
2109 SCH016 Schimke Immunoosseous Dysplasia 53
2110 MCR165 Microphthalmia with Limb Anomalies 53
2111 c WRD033 Waardenburg Syndrome, Type 2e 53
2112 MCN007 Meconium Aspiration Syndrome 52
2113 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 52
2114 P PTS002 Ptosis 52
2115 NVS001 Neovascular Glaucoma 52
2116 P PRR016 Pierre Robin Syndrome 52
2117 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 51
2118 HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 51
2119 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 51
2120 c LKD019 Leukodystrophy, Hypomyelinating, 6 51
2121 MLB001 Mulibrey Nanism 51
2122 MYL020 Myelomeningocele 51
2123 P HYP040 Hypospadias 51
2124 BWN001 Bowen-Conradi Syndrome 51
2125 P NML001 Nemaline Myopathy 51
2126 P LSS002 Lissencephaly 51
2127 P MTR003 Mitral Valve Stenosis 50
2128 c FML347 Familial Adenomatous Polyposis 2 50
2129 MLT134 Multiple Pterygium Syndrome, Lethal Type 50
2130 c FNC029 Fanconi Anemia, Complementation Group I 50
2131 RDL002 Radioulnar Synostosis 50
2132 HYL004 Hyaline Fibromatosis Syndrome 50
2133 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
2134 DDN011 Duodenal Atresia 49
2135 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
2136 PTS001 Patau Syndrome 49
2137 c NRB010 Neuroblastoma 1 49
2138 JCB001 Jacobsen Syndrome 49
2139 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 49
2140 c DYS119 Dystonia 9 49
2141 c ART120 Arthrogryposis, Distal, Type 3 49
2142 c LKD010 Leukodystrophy, Hypomyelinating, 2 48
2143 c DSB006 Desbuquois Dysplasia 1 48
2144 c NML002 Nemaline Myopathy 1 48
2145 GLC106 Glucocorticoid Resistance, Generalized 48
2146 PTC002 Potocki-Lupski Syndrome 47
2147 c NML003 Nemaline Myopathy 2 47
2148 MYP151 Myopathy, Congenital, Bailey-Bloch 47
2149 c AXN009 Axenfeld-Rieger Syndrome, Type 1 47
2150 SPN411 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 47
2151 CMP034 Complete Androgen Insensitivity Syndrome 47
2152 NNC002 Nance-Horan Syndrome 47
2153 c FNC023 Fanconi Anemia, Complementation Group N 47
2154 WDM005 Wiedemann-Rautenstrauch Syndrome 47
2155 P CRC039 Coarctation of Aorta 47
2156 FBL002 Fibular Hypoplasia and Complex Brachydactyly 47
2157 P FBR025 Fibrochondrogenesis 46
2158 HYD001 Hydranencephaly 46
2159 c EPP017 Epiphyseal Dysplasia, Multiple, 1 46
2160 P PNT019 Pontocerebellar Hypoplasia 46
2161 c MCK031 Meckel Syndrome, Type 2 46
2162 P SYR001 Syringomyelia 46
2163 c CHR320 Chiari Malformation Type I 46
2164 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 46
2165 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 46
2166 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 46
2167 MDD010 Middle Ear Disease 46
2168 c FNC047 Fanconi Anemia, Complementation Group Q 46
2169 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 46
2170 MCR173 Microform Holoprosencephaly 45
2171 CLL036 Culler-Jones Syndrome 45
2172 c BRT050 Bartter Syndrome, Type 2, Antenatal 45
2173 CYN002 Cyanosis, Transient Neonatal 45
2174 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 45
2175 DYG001 Dyggve-Melchior-Clausen Disease 45
2176 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
2177 c BRC109 Brachydactyly, Type E1 45
2178 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 45
2179 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 45
2180 ASP004 Asphyxia Neonatorum 45
2181 P VHW001 Vohwinkel Syndrome 45
2182 c NML004 Nemaline Myopathy 3 45
2183 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 45
2184 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 45
2185 HRT030 Hartsfield Syndrome 45
2186 FTL075 Fetal Encasement Syndrome 44
2187 LYM029 Lymphedema-Distichiasis Syndrome 44
2188 c LKD009 Leukodystrophy, Hypomyelinating, 5 44
2189 c RTS003 Ritscher-Schinzel Syndrome 1 44
2190 BZX001 Bazex Syndrome 44
2191 c RNG023 Ring Chromosome 7 44
2192 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
2193 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 44
2194 c FNC045 Fanconi Anemia, Complementation Group F 43
2195 ACR012 Aicardi Syndrome 43
2196 c DFN250 Deafness, Autosomal Recessive 2 43
2197 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
2198 FRY002 Fryns Syndrome 43
2199 c MLG147 Malignant Hyperthermia 1 43
2200 c XLN110 X-Linked Charcot-Marie-Tooth Disease 43
2201 CHN057 Chondrodysplasia, Grebe Type 43
2202 P EPT020 Epithelioid Hemangioendothelioma 43
2203 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 43
2204 OVR112 Ovarian Germ Cell Cancer 43
2205 DYS018 Dysostosis 43
2206 c CNG189 Congenital Disorder of Glycosylation, Type Ib 43
2207 RNL025 Renal Hypoplasia 43
2208 c CFF010 Coffin-Siris Syndrome 3 42
2209 c VNM003 Van Maldergem Syndrome 1 42
2210 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 42
2211 P JVN008 Juvenile Glaucoma 42
2212 c PCH012 Pachyonychia Congenita 2 42
2213 CRN049 Craniolenticulosutural Dysplasia 42
2214 P LTH003 Lethal Congenital Contracture Syndrome 42
2215 c DFN133 Deafness, Autosomal Recessive 9 42
2216 P RNG032 Ring Chromosome 42
2217 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
2218 OLV002 Oliver Syndrome 42
2219 c FNC058 Fanconi Anemia, Complementation Group R 42
2220 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 42
2221 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 41
2222 P ECT005 Ectropion 41
2223 c MCK034 Meckel Syndrome, Type 8 41
2224 GRN013 Greenberg Dysplasia 41
2225 ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 41
2226 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 41
2227 LCR013 Lacrimal Duct Defect 41
2228 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 41
2229 c MCR263 Microphthalmia, Syndromic 1 41
2230 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
2231 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
2232 ACH001 Acheiropody 40
2233 P CHR342 Chiari Malformation 40
2234 SPN402 Spinal Muscular Atrophy, X-Linked 2 40
2235 c NML006 Nemaline Myopathy 5 40
2236 P ANT061 Antenatal Bartter Syndrome 40
2237 ABR009 Abruzzo-Erickson Syndrome 40
2238 P MLT065 Multicentric Osteolysis, Nodulosis, and Arthropathy 40
2239 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 40
2240 c DFN098 Deafness, Autosomal Dominant 3a 40
2241 EPD022 Epidermolysis Bullosa Pruriginosa 40
2242 ART103 Arthrogryposis, Mental Retardation, and Seizures 40
2243 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 39
2244 c DYS151 Dystonia 25 39
2245 c LKD020 Leukodystrophy, Hypomyelinating, 10 39
2246 KGM001 Kagami-Ogata Syndrome 39
2247 P SPL061 Split Hand-Foot Malformation 38
2248 HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 38
2249 c DFN200 Deafness, Autosomal Dominant 17 38
2250 c NML005 Nemaline Myopathy 4 38
2251 c NLD014 Nail Disorder, Nonsyndromic Congenital, 4 38
2252 c NML010 Nemaline Myopathy 7 38
2253 c MCR211 Microphthalmia, Isolated 6 38
2254 c AML017 Amelogenesis Imperfecta, Type Ib 38
2255 c CTR130 Cataract 9, Multiple Types 38
2256 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 38
2257 PHC018 Phace Association 38
2258 c EPP012 Epiphyseal Dysplasia, Multiple, 2 37
2259 c DFN170 Deafness, Autosomal Recessive 31 37
2260 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 37
2261 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 37
2262 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 37
2263 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 37
2264 PRT048 Partial Atrioventricular Canal 37
2265 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 37
2266 OLV004 Oliver-Mcfarlane Syndrome 37
2267 c DFN092 Deafness, Autosomal Recessive 49 36
2268 c FRN049 Frontometaphyseal Dysplasia 1 36
2269 JJN004 Jejunal Atresia 36
2270 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 36
2271 HMM005 Hemimelia 36
2272 VRH001 Verheij Syndrome 36
2273 P OVR075 Ovarian Dysgenesis 1 36
2274 LNG040 Langer Mesomelic Dysplasia 36
2275 c CTR174 Cataract 40 36
2276 c LTH008 Lethal Congenital Contracture Syndrome 2 36
2277 c JBR030 Joubert Syndrome 22 36
2278 CHR075 Choriocarcinoma of Ovary 36
2279 c USH042 Usher Syndrome, Type Ig 35
2280 CHR501 Chromosome 17q12 Deletion Syndrome 35
2281 c NML022 Nemaline Myopathy 10 35
2282 MHR002 Mohr Syndrome 35
2283 c BRT028 Brittle Cornea Syndrome 1 35
2284 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
2285 CRB147 Cerebellofaciodental Syndrome 35
2286 c EPP009 Epiphyseal Dysplasia, Multiple, 6 35
2287 PNC104 Pancreatic and Cerebellar Agenesis 35
2288 c NRP039 Neuropathy, Hereditary Sensory, Type Id 35
2289 c LKD008 Leukodystrophy, Hypomyelinating, 4 35
2290 DST033 Distichiasis 35
2291 c SPN095 Spinocerebellar Ataxia 19 35
2292 c WLL036 Weill-Marchesani Syndrome 1 35
2293 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 35
2294 ATY022 Atypical Coarctation of Aorta 35
2295 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
2296 HMR015 Humeroradial Synostosis 34
2297 HYP679 Hypoglossia-Hypodactylia 34
2298 c MYS070 Myasthenic Syndrome, Congenital, 19 34
2299 c CTR145 Cataract 44 34
2300 c MLT059 Multiple Synostoses Syndrome 1 34
2301 PST063 Postsynaptic Congenital Myasthenic Syndromes 34
2302 TRC118 Trichodentoosseous Syndrome 34
2303 c RNG020 Ring Chromosome 4 34
2304 ODN009 Odontoonychodermal Dysplasia 34
2305 c SPN299 Spinocerebellar Ataxia 20 34
2306 P 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 34
2307 MCR257 Microcephaly, Amish Type 34
2308 SYN106 Syndromic Craniosynostosis 34
2309 P MXD016 Mixed Gonadal Dysgenesis 34
2310 c STC013 Stickler Syndrome, Type Ii 34
2311 P PRS124 Presynaptic Congenital Myasthenic Syndromes 33
2312 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 33
2313 c DFN192 Deafness, Autosomal Dominant 23 33
2314 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 33
2315 CKS001 Ck Syndrome 33
2316 c CRN277 Craniosynostosis 2 33
2317 P HYP700 Hypomyelinating Leukodystrophy 33
2318 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 33
2319 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 33
2320 MCR099 Microlissencephaly 33
2321 MCR119 Microtia, Hearing Impairment, and Cleft Palate 33
2322 c OMD001 Omodysplasia 1 33
2323 OCL034 Oculocerebrocutaneous Syndrome 33
2324 c MNT157 Mental Retardation, Autosomal Dominant 18 33
2325 c GLC083 Glaucoma 3, Primary Infantile, B 33
2326 c AML050 Amelogenesis Imperfecta, Type if 33
2327 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 33
2328 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 33
2329 PNT009 Pontine Tegmental Cap Dysplasia 33
2330 c NML021 Nemaline Myopathy 9 32
2331 TRN029 Transient Bullous Dermolysis of the Newborn 32
2332 BRN133 Bronchomalacia 32
2333 c NNN024 Noonan Syndrome 9 32
2334 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 32
2335 MLC004 Mulchandani-Bhoj-Conlin Syndrome 32
2336 P CHR084 Chromosomal Disease 32
2337 PNC120 Pancreas, Dorsal, Agenesis of 32
2338 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 32
2339 ISL096 Isolated Klippel-Feil Syndrome 32
2340 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 32
2341 c SVR040 Severe Congenital Nemaline Myopathy 32
2342 ACR017 Acrofacial Dysostosis 32
2343 c NML024 Nemaline Myopathy 11, Autosomal Recessive 32
2344 TBL008 Tibial Hemimelia 32
2345 TRC035 Tracheal Agenesis 32
2346 SLF015 Self-Improving Collodion Baby 32
2347 IVC001 Ivic Syndrome 32
2348 c ADM010 Adams-Oliver Syndrome 5 32
2349 P PRC050 Pericardium Disease 32
2350 c DSB005 Desbuquois Dysplasia 2 31
2351 c AXN012 Axenfeld-Rieger Syndrome, Type 2 31
2352 P RRL003 Rare Lymphatic Malformation 31
2353 c KNN007 Kenny-Caffey Syndrome, Type 2 31
2354 c KBK003 Kabuki Syndrome 2 31
2355 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 31
2356 VSC050 Vascular Malformation, Primary Intraosseous 31
2357 c DYS162 Dystonia, Juvenile-Onset 31
2358 c RNG029 Ring Chromosome 14 Syndrome 31
2359 c PRX057 Peroxisome Biogenesis Disorder 4a 31
2360 c ATS015 Autosomal Dominant Alport Syndrome 31
2361 c DFN259 Deafness, Autosomal Recessive 86 31
2362 SHR106 Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans 31
2363 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 31
2364 ISL061 Isolated Brachycephaly 31
2365 HYP648 Hypertension and Brachydactyly Syndrome 31
2366 c ANT084 Anterior Segment Dysgenesis 3 31
2367 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 30
2368 SGR001 Sugarman Brachydactyly 30
2369 c NRB014 Neuroblastoma 3 30
2370 OSC001 Oeis Complex 30
2371 c INT274 Intermediate Congenital Nemaline Myopathy 30
2372 GBR007 Gabriele-De Vries Syndrome 30
2373 AML065 Amelia 30
2374 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 30
2375 P HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 30
2376 c CTR185 Cataract 30 30
2377 LMB010 Lambert Syndrome 30
2378 PRT101 Poretti-Boltshauser Syndrome 30
2379 c CRN281 Craniosynostosis 7 30
2380 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 30
2381 c RTH007 Rothmund-Thomson Syndrome, Type 1 30
2382 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 30
2383 c GLP004 Geleophysic Dysplasia 2 30
2384 c CTR175 Cataract 24 29
2385 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 29
2386 c MNT296 Mental Retardation, X-Linked, Syndromic 34 29
2387 c HTR010 Heterotaxy, Visceral, 4, Autosomal 29
2388 MNT290 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted 29
2389 MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 29
2390 CHR270 Chromosome 9p Duplication 29
2391 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
2392 c PNT033 Pontocerebellar Hypoplasia, Type 10 29
2393 c SYN061 Syndactyly, Type Iv 29
2394 c BRC045 Brachyolmia Type 3 29
2395 NBL001 Nablus Mask-Like Facial Syndrome 29
2396 c MNT301 Mental Retardation, X-Linked 21 29
2397 TTR023 Tetraamelia-Multiple Malformations Syndrome 29
2398 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 29
2399 P CRN249 Cornea Plana 29
2400 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 29
2401 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
2402 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
2403 c SHR033 Short Qt Syndrome 3 28
2404 c HRD100 Hereditary Lymphedema Ic 28
2405 PRX085 Preaxial Hallucal Polydactyly 28
2406 c RNG022 Ring Chromosome 6 28
2407 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 28
2408 c OVR076 Ovarian Dysgenesis 2 28
2409 c LKD023 Leukodystrophy, Hypomyelinating, 12 28
2410 TRC110 Tracheobronchial Stenosis, Congenital 28
2411 c MNT270 Mental Retardation, Autosomal Recessive 53 28
2412 UNV002 Univentricular Heart 28
2413 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 28
2414 c OMD002 Omodysplasia 2 28
2415 P VCT008 Vacterl with Hydrocephalus 28
2416 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 28
2417 48X001 48, Xxxx 28
2418 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 28
2419 MLY010 Molybdenum Cofactor Deficiency, Complementation Group C 28
2420 CYL001 Cayler Cardiofacial Syndrome 28
2421 c NML007 Nemaline Myopathy 6 28
2422 c CTR181 Cataract 18 28
2423 ACR102 Acrorenal-Mandibular Syndrome 28
2424 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 28
2425 c ORF023 Orofacial Cleft 4 28
2426 c MNT262 Mental Retardation, Autosomal Dominant 42 28
2427 c CTR121 Cataract 25 27
2428 c ATS006 Autosomal Recessive Nonsyndromic Deafness 27
2429 c RNG016 Ring Chromosome 20 27
2430 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 27
2431 c DFN280 Deafness, Autosomal Recessive 27
2432 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
2433 c FRN032 Frontonasal Dysplasia 3 27
2434 FMR016 Femur-Fibula-Ulna Syndrome 27
2435 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
2436 c NRB015 Neuroblastoma 2 27
2437 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
2438 CHR393 Chromosome 19p13.13 Deletion Syndrome 27
2439 c DFN277 Deafness, Autosomal Recessive 102 27
2440 P BLT016 Bilateral Polymicrogyria 27
2441 c RNG007 Ring Chromosome 12 27
2442 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
2443 THR032 Thoracolaryngopelvic Dysplasia 27
2444 P ACR093 Acrofrontofacionasal Dysostosis 27
2445 STB002 Satb2-Associated Syndrome 27
2446 c CHR565 Chromosomal Deletion Syndrome 27
2447 UNL005 Unilateral Polymicrogyria 27
2448 CRL001 Cerulean Cataract 27
2449 CRT028 Cor Triatriatum 27
2450 c PRX066 Peroxisome Biogenesis Disorder 3b 27
2451 c LSS025 Lissencephaly 5 26
2452 RTN194 Retinitis Pigmentosa with or Without Skeletal Anomalies 26
2453 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 26
2454 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 26
2455 c CRN217 Craniosynostosis 3 26
2456 c PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 26
2457 c THR069 Three M Syndrome 2 26
2458 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 26
2459 HMF010 Hemifacial Microsomia with Radial Defects 26
2460 c HRD219 Hereditary Distal Renal Tubular Acidosis 26
2461 c ORF016 Orofacial Cleft 8 26
2462 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 26
2463 c FRN037 Frontal Encephalocele 26
2464 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 26
2465 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
2466 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 26
2467 c BSL030 Basal Encephalocele 26
2468 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 26
2469 c DFN151 Deafness, Autosomal Dominant 24 26
2470 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 26
2471 c SPN420 Spinocerebellar Ataxia 46 26
2472 ACR037 Acromegaloid Facial Appearance Syndrome 26
2473 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 26
2474 c LPR007 Leopard Syndrome 3 26
2475 FTL073 Fetal Anticonvulsant Syndrome 26
2476 ULN023 Ulnar Hypoplasia 26
2477 c CRB051 Cerebral Cavernous Malformation, Familial 26
2478 SHR097 Short Tarsus with Absence of Lower Eyelashes 26
2479 HRD037 Hardikar Syndrome 26
2480 c CWD009 Cowden Syndrome 7 25
2481 c DFN163 Deafness, Autosomal Dominant 7 25
2482 c VNT024 Ventricular Septal Defect 3 25
2483 c DFN118 Deafness, Autosomal Dominant 44 25
2484 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 25
2485 c WLL038 Weill-Marchesani Syndrome 3 25
2486 OCL030 Oculoauriculofrontonasal Syndrome 25
2487 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 25
2488 c LKD031 Leukodystrophy, Hypomyelinating, 18 25
2489 P RCR026 Recurrent Hydatidiform Mole 25
2490 c RNG024 Ring Chromosome 8 25
2491 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 25
2492 ACR020 Acropectorovertebral Dysplasia 25
2493 FBR088 Fibromatosis, Gingival, with Progressive Deafness 25
2494 c GLY103 Glycosylphosphatidylinositol Biosynthesis Defect 15 25
2495 CHR366 Chromosome 5p13 Duplication Syndrome 25
2496 PSD030 Pseudodiastrophic Dysplasia 25
2497 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 25
2498 P PLM069 Pulmonary Venous Return Anomaly 25
2499 c DNR004 Duane Retraction Syndrome 2 25
2500 c GLL046 Galloway-Mowat Syndrome 7 25
2501 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 25
2502 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
2503 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 25
2504 ATR055 Atrial Septal Aneurysm 25
2505 c ACQ004 Acquired Hemangioma 25
2506 c XLN227 X-Linked Chondrodysplasia Punctata 1 25
2507 ACL002 Acalvaria 25
2508 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
2509 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 25
2510 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
2511 MNT256 Mental Retardation, Buenos Aires Type 24
2512 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 24
2513 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 24
2514 NRD026 Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Variable Brain Anomalies 24
2515 c MLG148 Malignant Hyperthermia 2 24
2516 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 24
2517 c ORF028 Orofacial Cleft 10 24
2518 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 24
2519 c LSS035 Lissencephaly 8 24
2520 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 24
2521 c ART060 Arthrogryposis, Distal, Type 1b 24
2522 c SPN372 Spinocerebellar Ataxia 43 24
2523 IST007 Isotretinoin Embryopathy-Like Syndrome 24
2524 c DFN179 Deafness, Autosomal Recessive 62 24
2525 BCR002 Bicornuate Uterus 24
2526 c ACR105 Acrofrontofacionasal Dysostosis 2 24
2527 c ADL068 Adult-Onset Nemaline Myopathy 24
2528 CHR159 Charlie M Syndrome 24
2529 c LTH039 Lethal Congenital Contracture Syndrome 11 24
2530 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
2531 c CTR116 Cataract 15, Multiple Types 24
2532 c LKD022 Leukodystrophy, Hypomyelinating, 13 24
2533 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 24
2534 c MNT191 Mental Retardation, X-Linked, Syndromic 17 24
2535 ART037 Arthrogryposis and Ectodermal Dysplasia 24
2536 c HYD041 Hydatidiform Mole, Recurrent, 2 24
2537 c LTH027 Lethal Congenital Contracture Syndrome 5 24
2538 c LKD027 Leukodystrophy, Hypomyelinating, 14 24
2539 LLS001 Lelis Syndrome 24
2540 c DKP001 Dk Phocomelia Syndrome 24
2541 c LTH029 Lethal Congenital Contracture Syndrome 9 24
2542 ACR101 Acrocraniofacial Dysostosis 23
2543 P SPN236 Spina Bifida Cystica 23
2544 c VSC046 Vesicoureteral Reflux 8 23
2545 c FRS015 Fraser Syndrome 3 23
2546 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 23
2547 c SYN088 Synpolydactyly 2 23
2548 c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 23
2549 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
2550 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 23
2551 GST035 Gestational Ovarian Choriocarcinoma 23
2552 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23
2553 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 23
2554 c DFN184 Deafness, Autosomal Recessive 85 23
2555 RGH010 Right Ventricular Hypoplasia, Isolated 23
2556 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
2557 CRN104 Craniotelencephalic Dysplasia 23
2558 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 23
2559 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 23
2560 FCC002 Faciocardiorenal Syndrome 23
2561 c ART128 Arthrogryposis, Distal, Type 6 23
2562 c FTL072 Fetal Akinesia Deformation Sequence 4 23
2563 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 23
2564 TTR019 Tetrasomy 5p 23
2565 c CTR165 Cataract 19, Multiple Types 23
2566 c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 23
2567 CRS011 Criss-Cross Heart 23
2568 DRM041 Dermoid Cysts, Familial Frontonasal 23
2569 c CTR110 Cataract 26, Multiple Types 23
2570 ERY043 Euryblepharon 23
2571 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 23
2572 c DFN273 Deafness, Autosomal Recessive 101 23
2573 MNT254 Mental Retardation Syndrome, Mietens-Weber Type 22
2574 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
2575 LYM125 Lymphedema, Cardiac Septal Defects, and Characteristic Facies 22
2576 TBS009 Teebi-Shaltout Syndrome 22
2577 c CRB209 Cerebellar Malformation 22
2578 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 22
2579 CRP034 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 22
2580 c ORF039 Orofaciodigital Syndrome Vii 22
2581 c VSC020 Vesicoureteral Reflux 2 22
2582 c MLG149 Malignant Hyperthermia 3 22
2583 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 22
2584 PLR024 Pilarowski-Bjornsson Syndrome 22
2585 c SPN419 Spinocerebellar Ataxia 45 22
2586 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
2587 c AML048 Amelogenesis Imperfecta, Type Ih 22
2588 c LTH031 Lethal Congenital Contracture Syndrome 6 22
2589 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 22
2590 c 46X059 46,xx Sex Reversal 4 22
2591 LRY046 Laryngeal Web, Familial 22
2592 ACR107 Acrofacial Dysostosis, Palagonia Type 22
2593 MTP004 Metaphyseal Acroscyphodysplasia 22
2594 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 22
2595 c PLY137 Polydactyly, Preaxial Iii 22
2596 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 22
2597 c LTH026 Lethal Congenital Contracture Syndrome 4 21
2598 c RNG019 Ring Chromosome 3 21
2599 MSC089 Mosaic Monosomy X 21
2600 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 21
2601 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21
2602 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 21
2603 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 21
2604 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 21
2605 c LKD029 Leukodystrophy, Hypomyelinating, 16 21
2606 MSL005 Mseleni Joint Disease 21
2607 c SCN048 Secondary Syringomyelia 21
2608 SPN228 Spondyloepiphyseal Dysplasia, Nishimura Type 21
2609 ACR019 Acropectoral Syndrome 21
2610 c PSD047 Pseudo-Turner Syndrome 21
2611 c CNG578 Congenital Hemangioma 21
2612 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 21
2613 c CNT111 Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1b 21
2614 HRS002 Hersh Podruch Weisskopk Syndrome 21
2615 c ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 21
2616 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 21
2617 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 21
2618 MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 21
2619 DFN308 Deafness, Progressive, with Stapes Fixation 21
2620 CRT060 Cor Triatriatum Sinister 21
2621 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 21
2622 c CTR163 Cataract 46, Juvenile-Onset 21
2623 EXT062 Extracranial Carotid Artery Aneurysm 21
2624 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 21
2625 CLV012 Clavicle, Pseudarthrosis of, Congenital 21
2626 ACH039 Achalasia-Microcephaly Syndrome 20
2627 CRN076 Crane-Heise Syndrome 20
2628 INT231 Intellectual Disability - Athetosis - Microphthalmia 20
2629 P SPN237 Spina Bifida Aperta 20
2630 HYD053 Hydrocephalus with Associated Malformations 20
2631 CHR483 Chromosome 3q13.31 Deletion Syndrome 20
2632 DRM042 Dermatoosteolysis, Kirghizian Type 20
2633 c MLT166 Multiple Synostoses Syndrome 4 20
2634 HRR005 Harrod Syndrome 20
2635 ALR004 Alar Cleft, Isolated 20
2636 c MGL035 Megalencephaly, Autosomal Dominant 20
2637 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 20
2638 XQ2003 Xq25 Duplication Syndrome 20
2639 OCL071 Oculocerebral Hypopigmentation Syndrome of Preus 20
2640 DPL007 Duplication of Urethra 20
2641 ISL084 Isolated Trigonocephaly 20
2642 c ORF014 Orofacial Cleft 5 20
2643 ECT085 Ectopia Cordis 20
2644 c MRG016 Meier-Gorlin Syndrome 8 20
2645 FBR087 Fibromatosis, Gingival, with Distinctive Facies 20
2646 BRN125 Branchiogenic-Deafness Syndrome 20
2647 c DFN157 Deafness, Autosomal Dominant 47 20
2648 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 20
2649 PHV001 Phaver Syndrome 20
2650 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 20
2651 FCC003 Faciocardiomelic Dysplasia, Lethal 20
2652 RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 20
2653 LVC002 Levocardia 20
2654 c MNS011 Monosomy 9q22.3 20
2655 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 20
2656 c RNG012 Ring Chromosome 17 20
2657 ULN014 Ulnar Hemimelia 20
2658 c CHN071 Chondrodysplasia Punctata, Autosomal Dominant 19
2659 RRV005 Rare Vascular Tumor 19
2660 ATR053 Atresia of Urethra 19
2661 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 19
2662 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 19
2663 c PNT053 Pontocerebellar Hypoplasia, Type 13 19
2664 c NLD011 Nail Disorder, Nonsyndromic Congenital, 2 19
2665 NSL017 Nasolacrimal Duct Cyst 19
2666 CNG260 Congenital Enterovirus Infection 19
2667 c CNT094 Cantú Syndrome and Related Disorders 19
2668 c DFN165 Deafness, Autosomal Recessive 14 19
2669 FLL034 Fallot Complex with Severe Mental and Growth Retardation 19
2670 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
2671 c GLY113 Glycosylphosphatidylinositol Biosynthesis Defect 21 19
2672 CRV062 Cervical Spina Bifida Cystica 19
2673 c STS009 Sotos Syndrome 3 19
2674 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
2675 CRV063 Cervical Spina Bifida Aperta 19
2676 CHR567 Chromosome 5q12 Deletion Syndrome 19
2677 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 19
2678 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 19
2679 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19
2680 MYC074 Myoclonus, Cerebellar Ataxia, and Deafness 19
2681 AML012 Ameloonychohypohidrotic Syndrome 19
2682 DBL007 Double Outlet Left Ventricle 19
2683 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
2684 OPT077 Optic Disc Pit 19
2685 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 19
2686 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
2687 c CNG579 Congenital Nemaline Myopathy 19
2688 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 19
2689 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 19
2690 c ORF020 Orofacial Cleft 12 19
2691 HLL013 Hall-Riggs Mental Retardation Syndrome 18
2692 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
2693 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
2694 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 18
2695 FTL058 Fetal Trimethadione Syndrome 18
2696 MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 18
2697 KNS006 Kniest-Like Dysplasia, Lethal 18
2698 RDH004 Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies 18
2699 ORM001 Oro-Mandibular-Limb Hypogenesis Syndrome 18
2700 c MCR108 Microphthalmia, Isolated 7 18
2701 MNT030 Mental Retardation Syndrome, Belgian Type 18
2702 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 18
2703 OTN001 Otoonychoperoneal Syndrome 18
2704 CNC020 Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma 18
2705 ACT206 Acitretin/etretinate Embryopathy 18
2706 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 18
2707 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 18
2708 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 18
2709 MCD004 Macdermot-Winter Syndrome 18
2710 DBL010 Double-Orifice Mitral Valve 18
2711 ECT090 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum 18
2712 FTL074 Fetal Lower Urinary Tract Obstruction 18
2713 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 18
2714 ATR017 Atrial Septal Defect Coronary Sinus 18
2715 c AML064 Amelogenesis Imperfecta, Type Iiic 18
2716 c ERL044 Early-Onset Posterior Polar Cataract 18
2717 CLF033 Cleft Mitral Valve 18
2718 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 18
2719 CRN224 Craniofaciofrontodigital Syndrome 18
2720 CNG108 Congenital Mitral Stenosis 18
2721 c DFN328 Deafness, Autosomal Dominant 72 18
2722 CLF047 Cleft-Limb-Heart Malformation Syndrome 18
2723 PRC021 Parc Syndrome 18
2724 THR084 Thoracolumbosacral Spina Bifida Cystica 18
2725 c TTL008 Total Spina Bifida Cystica 18
2726 CRV064 Cervicothoracic Spina Bifida Aperta 18
2727 c TTL009 Total Spina Bifida Aperta 18
2728 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 18
2729 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 18
2730 c HYD067 Hydatidiform Mole, Recurrent, 3 18
2731 c DFN337 Deafness, Autosomal Recessive 107 18
2732 HYP687 Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy 17
2733 c PLY103 Polydactyly, Postaxial, Type A5 17
2734 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 17
2735 SPR065 Supernumerary Nostril 17
2736 c MNT247 Mental Retardation, X-Linked 73 17
2737 MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 17
2738 CXR001 Coxoauricular Syndrome 17
2739 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
2740 KZL006 Kozlowski-Krajewska Syndrome 17
2741 BRC096 Brachydactyly-Distal Symphalangism Syndrome 17
2742 VCL007 Vocal Cord Paralysis and Ptosis 17
2743 CNG491 Congenital Portosystemic Shunt 17
2744 c MNT204 Mental Retardation, X-Linked 23 17
2745 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 17
2746 SHR023 Short Stature Syndrome, Brussels Type 17
2747 WHT005 White Forelock with Malformations 17
2748 ARC009 Auriculoosteodysplasia 17
2749 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 17
2750 3Q2006 3q27.3 Microdeletion Syndrome 17
2751 c DFN368 Deafness, Autosomal Dominant 74 17
2752 HYP688 Hypospadias-Mental Retardation Syndrome 17
2753 c SYN056 Syndromic X-Linked Intellectual Disability 7 17
2754 9P1001 9p13 Microdeletion Syndrome 17
2755 EPL162 Epilepsy-Telangiectasia 17
2756 MCR207 Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma 17
2757 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 17
2758 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 17
2759 c DFN379 Deafness, Autosomal Dominant 37 17
2760 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 17
2761 THM019 Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay 17
2762 c NLD013 Nail Disorder, Nonsyndromic Congenital, 5 17
2763 ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 17
2764 THR033 Thoracomelic Dysplasia 17
2765 THY105 Thyrocerebroretinal Syndrome 17
2766 TRG007 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 17
2767 LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 17
2768 c DFN325 Deafness, Autosomal Recessive 108 17
2769 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 17
2770 PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 17
2771 c PST077 Posterior Meningocele 16
2772 SCT004 Scott Bryant Graham Syndrome 16
2773 c MNT194 Mental Retardation, X-Linked 50 16
2774 CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 16
2775 CRN308 Coronary Arterial Fistula 16
2776 HND005 Hand and Foot Deformity with Flat Facies 16
2777 PLM065 Pulmonary Supravalvular Stenosis 16
2778 CNG330 Congenital Megacalycosis 16
2779 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
2780 c DFN261 Deafness, Autosomal Recessive 46 16
2781 3P2001 3p25.3 Microdeletion Syndrome 16
2782 TYS007 Tyshchenko Syndrome 16
2783 CLD006 Cleidorhizomelic Syndrome 16
2784 c ZMM004 Zimmermann-Laband Syndrome 3 16
2785 CLF034 Cleft Hard Palate 16
2786 ABD008 Abidi X-Linked Mental Retardation Syndrome 16
2787 ISL118 Isolated Tracheoesophageal Fistula 16
2788 LNG102 Long-Thumb Brachydactyly Syndrome 16
2789 CMP016 Camptobrachydactyly 16
2790 CTR154 Cataract, Aberrant Oral Frenula, and Growth Retardation 16
2791 ART091 Aorto-Ventricular Tunnel 16
2792 HYP689 Hypomelia with Mullerian Duct Anomalies 16
2793 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 16
2794 WHT018 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 16
2795 c CNG596 Congenital Ectropion 16
2796 ECT086 Ectrodactyly-Polydactyly 16
2797 INF132 Infantile Osteopetrosis with Neuroaxonal Dysplasia 16
2798 c NRB011 Neuroblastoma 4 16
2799 PLY132 Polysyndactyly, Crossed 16
2800 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 16
2801 NNS061 Non-Syndromic Pontocerebellar Hypoplasia 16
2802 DFN311 Deafness-Craniofacial Syndrome 16
2803 AZY001 Azygos Continuation of the Inferior Vena Cava 16
2804 DDL001 Didelphys Uterus 16
2805 c CTR176 Cataract, Age-Related Nuclear 16
2806 SPN120 Spondylocamptodactyly 16
2807 c NRB012 Neuroblastoma 5 16
2808 MSC086 Mesocardia 15
2809 </