Fetal Diseases Category (5350 diseases)


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

# Family MCID Name MIFTS
1 FTL028 Fetal Retinoid Syndrome 14
2 P PRG092 Pregnancy Loss, Recurrent 1 41
3 P PRM252 Preimplantation Embryonic Lethality 1 25
4 TWN001 Twin-to-Twin Transfusion Syndrome 46
5 NCH001 Nuchal Bleb, Familial 24
6 c RHB023 Rhabdomyosarcoma, Embryonal, 1 45
7 EMB006 Embryonal Testis Carcinoma 31
8 CHL043 Childhood Embryonal Testis Carcinoma 8
9 PDT006 Pediatric Cns Embryonal Cell Carcinoma 7
10 P EMB005 Embryonal Rhabdomyosarcoma 53
11 FTL004 Fetal Erythroblastosis 32
12 OVR050 Ovarian Embryonal Carcinoma 31
13 CHL026 Childhood Ovarian Embryonal Carcinoma 8
14 c ADL007 Adult Central Nervous System Embryonal Carcinoma 7
15 FTL066 Fetal Akinesia Syndrome, X-Linked 14
16 FTL011 Fetal Aminopterin Syndrome 11
17 ACT091 Acitretin Embryopathy 7
18 CHL153 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified 4
19 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 24
20 P PRS062 Persistent Hyperplastic Primary Vitreous 48
21 ORB002 Orbit Embryonal Rhabdomyosarcoma 29
22 INT041 Intratubular Embryonal Carcinoma 26
23 GRM001 Germ Cell and Embryonal Cancer 25
24 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
25 c PRM251 Preimplantation Embryonic Lethality 2 16
26 PRS010 Prostate Embryonal Rhabdomyosarcoma 26
27 MTR016 Maternal Hyperphenylalaninemia 19
28 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
29 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
30 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
31 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
32 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 5
33 GCH018 Gaucher Disease, Perinatal Lethal 41
34 ALC001 Alcohol-Related Birth Defect 36
35 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 28
36 PRT001 Partial Fetal Alcohol Syndrome 21
37 FTL021 Fetal Macrosomia 41
38 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 26
39 FTL005 Fetal Adenoma 21
40 CCN012 Cocaine Antenatal Exposure 14
41 NNT022 Neonatal Ovarian Cyst 14
42 FTL048 Fetal Lung Interstitial Tumor 12
43 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 11
44 THY113 Thymic Aplasia with Fetal Death 8
45 MXD015 Mixed Type Rhabdomyosarcoma 5
46 SMT021 Somatomedin, Embryonic 4
47 FTL063 Fetal Nicotine Spectrum Disorder 3
48 FTL020 Fetal Left Ventricular Aneurysm 3
49 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 1
50 FTL027 Fetal Phenothiazine Syndrome 1
51 P HRT032 Heart Disease 81
52 c FNC027 Fanconi Anemia, Complementation Group a 81
53 PFF001 Pfeiffer Syndrome 77
54 P JBR020 Joubert Syndrome 1 74
55 P ALG028 Alagille Syndrome 1 73
56 SCH036 Scheie Syndrome 73
57 P DMN001 Diamond-Blackfan Anemia 71
58 CNT097 Central Hypoventilation Syndrome, Congenital 70
59 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
60 P CCK001 Cockayne Syndrome 68
61 P OCL013 Oculodentodigital Dysplasia 67
62 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65
63 P HYP055 Hypoplastic Left Heart Syndrome 65
64 HTC003 Hutchinson-Gilford Progeria Syndrome 65
65 c MCL013 Mucolipidosis Iv 65
66 P PTT014 Pitt-Hopkins Syndrome 64
67 INC021 Incontinentia Pigmenti 63
68 RBR002 Roberts-Sc Phocomelia Syndrome 63
69 P CRB048 Cerebral Cavernous Malformations 63
70 P THN009 Thanatophoric Dysplasia, Type I 63
71 CSY001 C Syndrome 61
72 CRT002 Cartilage-Hair Hypoplasia 60
73 P STC001 Stickler Syndrome 60
74 c MCL046 Mucolipidosis Iii Alpha/beta 60
75 P VND007 Van Der Woude Syndrome 1 60
76 CFF002 Coffin-Lowry Syndrome 60
77 SCR020 Sacral Defect with Anterior Meningocele 59
78 P CMR001 Camurati-Engelmann Disease 59
79 P PLY006 Polydactyly 59
80 P VNT002 Ventricular Septal Defect 58
81 c SPN309 Spinocerebellar Ataxia 6 58
82 PRL032 Perlman Syndrome 57
83 ANN002 Anencephaly 57
84 MLT134 Multiple Pterygium Syndrome, Lethal Type 56
85 MRS002 Marshall Syndrome 56
86 PRN038 Prune Belly Syndrome 56
87 MWT001 Mowat-Wilson Syndrome 55
88 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 55
89 KBG001 Kbg Syndrome 54
90 P FML012 Familial Partial Lipodystrophy 54
91 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 54
92 DNR002 Duane-Radial Ray Syndrome 54
93 c LTH007 Lethal Congenital Contracture Syndrome 1 53
94 KGM001 Kagami-Ogata Syndrome 53
95 P DNR001 Duane Retraction Syndrome 53
96 MLL018 Miller-Dieker Lissencephaly Syndrome 52
97 OPT054 Opitz-Kaveggia Syndrome 52
98 P ART018 Aortic Valve Insufficiency 52
99 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52
100 FRY006 Fryns Microphthalmia Syndrome 52
101 P NNT058 Neonatal Diabetes 52
102 P KLN006 Koolen-De Vries Syndrome 51
103 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 51
104 HYP088 Hyper-Igd Syndrome 51
105 OLG003 Oligohydramnios 51
106 P RBN002 Robinow Syndrome 51
107 LBS001 Lubs X-Linked Mental Retardation Syndrome 50
108 CHR005 Chorioamnionitis 50
109 ABL002 Ablepharon-Macrostomia Syndrome 50
110 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 50
111 c BRC079 Brachydactyly, Type A2 50
112 c BRC051 Brachydactyly, Type B1 50
113 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
114 YNS002 Yunis-Varon Syndrome 50
115 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 50
116 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 50
117 AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 50
118 c VNM003 Van Maldergem Syndrome 1 50
119 c MCK032 Meckel Syndrome, Type 3 49
120 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 49
121 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
122 P SMP003 Simpson-Golabi-Behmel Syndrome 49
123 P OVR082 Overgrowth Syndrome 49
124 MLT145 Multiple Enchondromatosis, Maffucci Type 49
125 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
126 c FNC048 Fanconi Anemia, Complementation Group O 49
127 PLC008 Placenta Disease 49
128 c HLP024 Holoprosencephaly 2 49
129 c BRD011 Bardet-Biedl Syndrome 10 49
130 CNT056 Cantu Syndrome 48
131 CHN065 Choanal Atresia, Posterior 48
132 c SCK009 Seckel Syndrome 1 48
133 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 48
134 SHR098 Short-Rib Thoracic Dysplasia 12 48
135 c HLP026 Holoprosencephaly 3 48
136 c JBR012 Joubert Syndrome 5 47
137 PLC007 Placental Abruption 47
138 LBR025 Lobar Holoprosencephaly 47
139 CRR002 Currarino Syndrome 47
140 c MCK012 Meckel Syndrome, Type 6 46
141 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 46
142 PLY012 Polyhydramnios 46
143 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 46
144 c FNC047 Fanconi Anemia, Complementation Group Q 46
145 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 46
146 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 46
147 c SPN312 Spinocerebellar Ataxia 14 46
148 ALB014 Alobar Holoprosencephaly 46
149 c OPT051 Opitz Gbbb Syndrome, Type I 46
150 NNC002 Nance-Horan Syndrome 46
151 c MCK031 Meckel Syndrome, Type 2 45
152 ACR012 Aicardi Syndrome 45
153 c JBR014 Joubert Syndrome 9 45
154 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45
155 c MCK014 Meckel Syndrome, Type 5 45
156 P PLY148 Polydactyly, Preaxial Ii 45
157 P CMM008 Communicating Hydrocephalus 45
158 WHT019 White-Sutton Syndrome 44
159 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 44
160 PLC001 Placenta Accreta 44
161 c EPP014 Epiphyseal Dysplasia, Multiple, 4 44
162 MCR173 Microform Holoprosencephaly 44
163 c GLP003 Geleophysic Dysplasia 1 44
164 c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 44
165 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 44
166 c BRC109 Brachydactyly, Type E1 43
167 c RNG023 Ring Chromosome 7 43
168 DXT002 Dextrocardia with Situs Inversus 43
169 P CHN044 Chondrodysplasia Punctata Syndrome 43
170 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
171 CYN002 Cyanosis, Transient Neonatal 43
172 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
173 P SYN075 Syngnathia 43
174 MYH012 Myhre Syndrome 43
175 P ANX007 Anauxetic Dysplasia 1 42
176 c GLL038 Galloway-Mowat Syndrome 1 42
177 CHR659 Chromosome 22q11.2 Duplication Syndrome 42
178 c SPN100 Spinocerebellar Ataxia 27 41
179 c MCR114 Microphthalmia, Isolated 3 41
180 ISL121 Isolated Split Hand-Split Foot Malformation 41
181 c PTT030 Pitt-Hopkins-Like Syndrome 2 41
182 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41
183 CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 41
184 c AML057 Amelogenesis Imperfecta, Type Iiia 41
185 P LTH003 Lethal Congenital Contracture Syndrome 41
186 HYP682 Hypertelorism, Teebi Type 40
187 c BRD021 Bardet-Biedl Syndrome 9 40
188 VND005 Van Den Ende-Gupta Syndrome 40
189 THR017 Thoracoabdominal Syndrome 40
190 OLV004 Oliver-Mcfarlane Syndrome 40
191 c CNG033 Congenital Syphilis 40
192 P MNN007 Meningocele 39
193 FRY002 Fryns Syndrome 39
194 c SYN059 Syndactyly, Type V 39
195 P RNG032 Ring Chromosome 39
196 48X005 48,xyyy 39
197 c GLP004 Geleophysic Dysplasia 2 39
198 c CNG404 Congenital Heart Defects, Multiple Types, 4 39
199 c CTR115 Cataract 16, Multiple Types 39
200 P SYN012 Synpolydactyly 38
201 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 38
202 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 38
203 c DMN006 Diamond-Blackfan Anemia 3 38
204 c DVL044 Developmental and Epileptic Encephalopathy 16 38
205 CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 38
206 TRP014 Triploidy 38
207 c HTR021 Heterotaxy, Visceral, 5, Autosomal 38
208 PLC009 Placenta Praevia 38
209 P TRC031 Trichorhinophalangeal Syndrome 38
210 SCR035 Sacral Agenesis with Vertebral Anomalies 38
211 c SPL034 Split-Hand/foot Malformation 4 37
212 MCR099 Microlissencephaly 37
213 ALG027 Al-Gazali-Bakalinova Syndrome 37
214 c SCK010 Seckel Syndrome 4 37
215 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
216 c AML020 Amelogenesis Imperfecta, Type Iv 37
217 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 37
218 c CTR181 Cataract 18 37
219 PLY100 Polyploidy 36
220 EPP011 Epiphyseal Chondrodysplasia, Miura Type 36
221 c SYN084 Synpolydactyly 1 36
222 c PRX055 Peroxisome Biogenesis Disorder 11a 36
223 P LSS024 Lissencephaly with Cerebellar Hypoplasia 36
224 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36
225 c DVL052 Developmental and Epileptic Encephalopathy 26 36
226 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 36
227 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 35
228 c DMN017 Diamond-Blackfan Anemia 10 35
229 c VNM002 Van Maldergem Syndrome 2 35
230 P MXD016 Mixed Gonadal Dysgenesis 35
231 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 35
232 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 35
233 P SYN165 Syndromic Microphthalmia 34
234 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 34
235 ISL096 Isolated Klippel-Feil Syndrome 34
236 CHR501 Chromosome 17q12 Deletion Syndrome 34
237 EMN001 Emanuel Syndrome 34
238 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 34
239 MCR355 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 34
240 c BRC075 Brachydactyly, Type A1, C 34
241 c BTH006 Bethlem Myopathy 2 33
242 ISL109 Isolated Cleft Lip 33
243 c PK3005 Pik3ca-Related Overgrowth Syndrome 33
244 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 33
245 P ACR072 Acrorenal Syndrome 33
246 c XLN227 X-Linked Chondrodysplasia Punctata 1 33
247 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 33
248 ISL011 Isolated Aniridia 33
249 c MYS064 Myasthenic Syndrome, Congenital, 16 33
250 c BRT029 Brittle Cornea Syndrome 2 33
251 PRT049 Partial Deletion of Y 33
252 P RTS001 Ritscher-Schinzel Syndrome 33
253 c LTH026 Lethal Congenital Contracture Syndrome 4 33
254 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 33
255 SLF015 Self-Improving Collodion Baby 33
256 BRC004 Brachydactyly-Syndactyly Syndrome 32
257 c MCR329 Microcephaly, Autosomal Dominant 32
258 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
259 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 32
260 c VCT004 Vacterl Association with Hydrocephalus 32
261 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 32
262 HYP223 Hypoplastic Right Heart Syndrome 32
263 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 32
264 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 32
265 c PRM022 Primary Syphilis 32
266 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 32
267 c THR069 Three M Syndrome 2 32
268 c NLD012 Nail Disorder, Nonsyndromic Congenital, 3 32
269 CHN019 Chand Syndrome 32
270 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
271 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 31
272 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
273 c DMN049 Diamond-Blackfan Anemia 20 31
274 SPN012 Spindle Cell Hemangioma 31
275 c CTR185 Cataract 30 31
276 c DVL067 Developmental and Epileptic Encephalopathy 42 31
277 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
278 c CNG416 Congenital Disorder of Glycosylation, Type Iy 31
279 ANM001 Anemia of Prematurity 31
280 c ERL002 Early Congenital Syphilis 31
281 c NNN025 Noonan Syndrome 10 30
282 FCL090 Facial Cleft 30
283 NNT005 Neonatal Candidiasis 30
284 c RNG004 Ring Chromosome 1 30
285 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 30
286 CRT069 Cortical Malformations, Occipital 30
287 c MRG010 Meier-Gorlin Syndrome 3 30
288 c ICH023 Ichthyosis, Acquired 30
289 c HTR010 Heterotaxy, Visceral, 4, Autosomal 30
290 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
291 PLY036 Polyembryoma 30
292 INF021 Infant Gynecomastia 30
293 c SPL025 Split-Hand/foot Malformation 5 30
294 c SCK032 Seckel Syndrome 6 30
295 c PLY149 Polydactyly, Preaxial Iv 30
296 AML065 Amelia 29
297 TTR012 Tetrasomy 9p 29
298 c RNG018 Ring Chromosome 22 29
299 LWR019 Lowry-Wood Syndrome 29
300 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 29
301 CNG437 Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 29
302 WRF003 Warfarin Syndrome 29
303 RHM015 Rhombencephalosynapsis 29
304 MCR302 Macrostomia, Isolated 29
305 c USH030 Usher Syndrome, Type Ik 29
306 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
307 c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 29
308 CRL006 Caroli Disease, Isolated 28
309 c AML018 Amelogenesis Imperfecta, Type Ic 28
310 c PRX091 Peroxisome Biogenesis Disorder 8a 28
311 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 28
312 MTR087 Maternal Uniparental Disomy 28
313 c DMN005 Diamond-Blackfan Anemia 2 28
314 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 28
315 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 28
316 P ISL029 Isolated Anorectal Malformation 28
317 CHR366 Chromosome 5p13 Duplication Syndrome 28
318 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 28
319 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 28
320 MSM016 Mesomelic Dysplasia, Kantaputra Type 28
321 MCR326 Microcephaly-Micromelia Syndrome 27
322 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
323 NRL025 Neural Tube Closure Defect 27
324 c PRX047 Peroxisome Biogenesis Disorder 5b 27
325 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 27
326 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 27
327 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27
328 CBB002 Cobb Syndrome 27
329 CHR209 Chromosome 17p Duplication 27
330 CHR268 Chromosome 8q Duplication 27
331 c FRN032 Frontonasal Dysplasia 3 27
332 c PSD107 Pseudo-Torch Syndrome 2 27
333 P TRS029 Trisomy 1q 27
334 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 27
335 c BRC108 Brachydactyly, Type A3 27
336 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
337 49X001 49, Xxxxx 27
338 RCM003 Recombinant Chromosome 8 Syndrome 27
339 CHR498 Chromosome 16p11.2 Duplication Syndrome 27
340 c DMN019 Diamond-Blackfan Anemia 4 27
341 ISL089 Isolated Scaphocephaly 26
342 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 26
343 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 26
344 BLT009 Bilateral Generalized Polymicrogyria 26
345 DPL007 Duplication of Urethra 26
346 c DVL091 Developmental and Epileptic Encephalopathy 67 26
347 CDG001 Cdags Syndrome 26
348 P PST016 Posterior Polar Cataract 26
349 c CTR110 Cataract 26, Multiple Types 26
350 CHR010 Chorioangioma 26
351 APR009 Aprosencephaly Syndrome 26
352 ATR053 Atresia of Urethra 26
353 THR032 Thoracolaryngopelvic Dysplasia 26
354 P MCR327 Microcephaly, Short Stature, and Limb Abnormalities 26
355 LMB076 Lumbar Syndrome 25
356 P ACR093 Acrofrontofacionasal Dysostosis 25
357 NRN022 Neurenteric Cyst 25
358 CHR212 Chromosome 18p Duplication 25
359 c MCK035 Meckel Syndrome, Type 10 25
360 ULN023 Ulnar Hypoplasia 25
361 c MRG015 Meier-Gorlin Syndrome 7 25
362 c CTR116 Cataract 15, Multiple Types 25
363 c DVL088 Developmental and Epileptic Encephalopathy 64 25
364 HYP717 Hypotonia, Infantile, with Psychomotor Retardation 25
365 CRN266 Craniofacial Dyssynostosis with Short Stature 25
366 c SYM019 Symphalangism, Proximal, 1b 25
367 ATR017 Atrial Septal Defect Coronary Sinus 25
368 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 25
369 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 25
370 KLP016 Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism 25
371 c JBR040 Joubert Syndrome 30 25
372 c MNS008 Monosomy 21 25
373 GNT043 Genitopalatocardiac Syndrome 25
374 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 25
375 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24
376 c DVL068 Developmental and Epileptic Encephalopathy 43 24
377 c TRS012 Trisomy 22 24
378 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
379 c JBR021 Joubert Syndrome 18 24
380 c VNT024 Ventricular Septal Defect 3 24
381 c LTH030 Lethal Congenital Contracture Syndrome 8 24
382 c BLP049 Blepharocheilodontic Syndrome 2 24
383 c PK3004 Pik3ca-Related Overgrowth Spectrum 24
384 CMP035 Complete Atrioventricular Canal 24
385 c CNG521 Congenital Heart Defects, Multiple Types, 5 24
386 c ORF025 Orofacial Cleft 6 24
387 c ORF047 Orofacial Cleft 15 24
388 c LKD027 Leukodystrophy, Hypomyelinating, 14 24
389 c MCK036 Meckel Syndrome, Type 9 24
390 c VNT026 Ventricular Septal Defect 2 24
391 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 24
392 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 23
393 ADD006 Adducted Thumbs Syndrome 23
394 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
395 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 23
396 c SCK037 Seckel Syndrome 9 23
397 SPN228 Spondyloepiphyseal Dysplasia, Nishimura Type 23
398 AXL004 Axial Mesodermal Dysplasia Spectrum 23
399 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 23
400 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 23
401 ATR055 Atrial Septal Aneurysm 23
402 c ACR105 Acrofrontofacionasal Dysostosis 2 23
403 c HTR020 Heterotaxy, Visceral, 8, Autosomal 23
404 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 22
405 c ERL044 Early-Onset Posterior Polar Cataract 22
406 P UNP013 Uniparental Disomy of Chromosome 1 22
407 PLR024 Pilarowski-Bjornsson Syndrome 22
408 c RNG015 Ring Chromosome 2 22
409 RGH010 Right Ventricular Hypoplasia, Isolated 22
410 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 22
411 c CNG616 Congenital Heart Defects, Multiple Types, 7 22
412 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21
413 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 21
414 c AML048 Amelogenesis Imperfecta, Type Ih 21
415 TBS009 Teebi-Shaltout Syndrome 21
416 DPR014 Diprosopus 21
417 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 21
418 MSL005 Mseleni Joint Disease 21
419 INV022 Inverted Duplicated Chromosome 15 Syndrome 21
420 CNG009 Congenital Aortic Valve Stenosis 21
421 c 46X080 46,xx Sex Reversal 5 21
422 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
423 c LTH031 Lethal Congenital Contracture Syndrome 6 21
424 PLV015 Pelvis-Shoulder Dysplasia 21
425 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 21
426 c OVR119 Ovarian Dysgenesis 7 21
427 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
428 c NNP017 Nanophthalmos 1 21
429 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
430 CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 21
431 CMP077 Composite Hemangioendothelioma 21
432 ERY043 Euryblepharon 21
433 P PTR018 Paternal Uniparental Disomy of Chromosome 6 21
434 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
435 c HRN024 Horner Syndrome, Congenital 21
436 ACH039 Achalasia-Microcephaly Syndrome 21
437 TTR018 Tetragametic Chimerism 20
438 c OVR115 Ovarian Dysgenesis 5 20
439 DST045 Distal Trisomy 6p 20
440 INT231 Intellectual Disability - Athetosis - Microphthalmia 20
441 c 46X046 46,xy Sex Reversal 4 20
442 ATK002 Atkin-Flaitz Syndrome 20
443 CLV012 Clavicle, Pseudarthrosis of, Congenital 20
444 MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 20
445 ERL042 Early-Onset Partial Cataract 20
446 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 20
447 c MGL035 Megalencephaly, Autosomal Dominant 20
448 c CTR160 Cataract 45 20
449 CRB164 Cerebrooculonasal Syndrome 20
450 c CTR139 Cataract 42 20
451 NNS061 Non-Syndromic Pontocerebellar Hypoplasia 20
452 CMP039 Camptodactyly 1 20
453 SBP003 Subependymal Nodular Heterotopia 20
454 13Q001 13q12.3 Microdeletion Syndrome 20
455 FBR087 Fibromatosis, Gingival, with Distinctive Facies 20
456 LVC002 Levocardia 20
457 UNL006 Unilateral Focal Polymicrogyria 19
458 SPN349 Spondylometaphyseal Dysplasia, Type A4 19
459 c BRC105 Brachydactyly, Type A1, D 19
460 PTR034 Paternal Uniparental Disomy 19
461 c DVL108 Developmental and Epileptic Encephalopathy 86 19
462 XQ2003 Xq25 Duplication Syndrome 19
463 MNS012 Monostotic Fibrous Dysplasia 19
464 CHR416 Chromosome 17q Deletion 19
465 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 19
466 SPN353 Spondylometaphyseal Dysplasia, X-Linked 19
467 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 19
468 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 19
469 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 19
470 c RNG025 Ring Chromosome 9 19
471 MTR027 Mitral Atresia 19
472 c CNG433 Congenital Cornea Plana 19
473 c RNG019 Ring Chromosome 3 19
474 c SPN259 Spinocerebellar Ataxia 32 19
475 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
476 PCH004 Pachygyria, Frontotemporal 19
477 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 19
478 EDN001 Edinburgh Malformation Syndrome 18
479 MSC081 Mosaic Trisomy 15 18
480 DBL007 Double Outlet Left Ventricle 18
481 MLT148 Multiple Pterygium Syndrome, X-Linked 18
482 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
483 KNS006 Kniest-Like Dysplasia, Lethal 18
484 CRV062 Cervical Spina Bifida Cystica 18
485 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 18
486 P CNG070 Congenital Dislocation of the Patella 18
487 PRR029 Pierre Robin Syndrome and Oligodactyly 18
488 NNR005 Non-Rhizomelic Chondrodysplasia Punctata 18
489 1Q4001 1q44 Microdeletion Syndrome 18
490 c BLT007 Bilateral Frontal Polymicrogyria 18
491 c 46X050 46,xx Sex Reversal 3 18
492 c MTR062 Maternal Uniparental Disomy of Chromosome 4 18
493 APL028 Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 18
494 c PLY144 Polydactyly, Postaxial, Type A7 18
495 ECT085 Ectopia Cordis 18
496 OCL057 Oculotrichodysplasia 18
497 MSC017 Mosaic Trisomy 22 18
498 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 18
499 c DMN048 Diamond-Blackfan Anemia 19 18
500 c CNG578 Congenital Hemangioma 18
501 CHR182 Chromosome 10p Duplication 18
502 VRR008 Verrucous Hemangioma 18
503 MSM018 Mesomelic Limb Shortening and Bowing 18
504 SMM003 Summitt Syndrome 18
505 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 18
506 LMB056 Lumbosacral Spina Bifida Cystica 18
507 FCL064 Facial Dysmorphism with Multiple Malformations 18
508 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 17
509 7P2001 7p22.1 Microduplication Syndrome 17
510 CLF047 Cleft-Limb-Heart Malformation Syndrome 17
511 MCD004 Macdermot-Winter Syndrome 17
512 SPR065 Supernumerary Nostril 17
513 16P004 16p13.11 Microduplication Syndrome 17
514 LNS008 Lens Position Anomaly 17
515 c PTS018 Ptosis, Hereditary Congenital 1 17
516 c PRG096 Pregnancy Loss, Recurrent 2 17
517 MYL044 Myelocystocele 17
518 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 17
519 BRC090 Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia 17
520 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
521 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 17
522 FCL087 Facial Infiltrating Lipomatosis 17
523 c TTL009 Total Spina Bifida Aperta 17
524 MMB012 Membranous Cranial Ossification, Delayed 17
525 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 17
526 CNG491 Congenital Portosystemic Shunt 17
527 DST069 Distal Monosomy 12q 17
528 THY105 Thyrocerebroretinal Syndrome 17
529 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
530 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 17
531 c RNG014 Ring Chromosome 19 17
532 c SYN040 Synpolydactyly 3 17
533 c MTR061 Maternal Uniparental Disomy of Chromosome 6 17
534 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 16
535 c HYD042 Hydrocephalus, Autosomal Dominant 16
536 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 16
537 CNG330 Congenital Megacalycosis 16
538 PRN057 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 16
539 DYS135 Dysphagia Lusoria 16
540 PNH003 Pinheiro Freire-Maia Miranda Syndrome 16
541 14Q001 14q12 Microdeletion Syndrome 16
542 ISL133 Isolated Epispadias 16
543 ERL040 Early-Onset Sutural Cataract 16
544 c PLY184 Polydactyly, Postaxial, Type A10 16
545 RDL029 Radial Ray Hypoplasia with Choanal Atresia 16
546 NND006 Non-Distal Monosomy 20q 16
547 c NNS019 Nonsyndromic Holoprosencephaly 16
548 P ATS469 Autosomal Monosomy 16
549 CLF034 Cleft Hard Palate 16
550 PFF010 Pfeiffer-Palm-Teller Syndrome 16
551 TRS011 Trisomy 2 Mosaicism 16
552 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 16
553 c MTR067 Maternal Uniparental Disomy of Chromosome 16 16
554 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
555 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 16
556 CLD006 Cleidorhizomelic Syndrome 15
557 CYS047 Cystic Fibrosis, Modifier of, 1 15
558 c ANG028 Angioma Serpiginosum, Autosomal Dominant 15
559 c ORF029 Orofacial Cleft 13 15
560 PTS017 Ptosis, Strabismus, and Ectopic Pupils 15
561 ECT086 Ectrodactyly-Polydactyly 15
562 PLY132 Polysyndactyly, Crossed 15
563 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 15
564 LRS009 Larsen-Like Syndrome, Lethal Type 15
565 FRS011 First Branchial Cleft Anomaly 15
566 46X015 46,xy Ovotesticular Disorder of Sex Development 15
567 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 15
568 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 15
569 1P2001 1p21.3 Microdeletion Syndrome 15
570 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 15
571 AST010 Astley-Kendall Syndrome 15
572 XP2002 Xp22.13p22.2 Duplication Syndrome 15
573 DLT013 Deletion 5q35 14
574 49X004 49,xyyyy Syndrome 14
575 PRT161 Partial Deletion of the Short Arm of Chromosome 3 14
576 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 14
577 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 14
578 PHK006 Phakomatosis Pigmentokeratotica 14
579 CNS012 Cono-Spondylar Dysplasia 14
580 P CNG600 Congenital Arteriovenous Fistula 14
581 SXC007 Sex-Chromosome Anomaly 14
582 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 14
583 16P005 16p11.2p12.2 Microduplication Syndrome 14
584 c CNT108 Central Polydactyly 14
585 c SX2003 Six2-Related Frontonasal Dysplasia 14
586 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
587 c UNP008 Uniparental Disomy of Chromosome 15 14
588 HYP497 Hyperphalangy 14
589 DRM038 Dermotrichic Syndrome 14
590 c ORF020 Orofacial Cleft 12 14
591 16P011 16p12.1p12.3 Triplication Syndrome 14
592 c UNP007 Uniparental Disomy of Chromosome 6 14
593 SBM006 Submucosal Cleft Palate 14
594 PRT165 Partial Deletion of the Short Arm of Chromosome 7 14
595 20Q001 20q13.33 Microdeletion Syndrome 14
596 MSC080 Mosaic Trisomy 12 14
597 P LTH050 Lethal Chondrodysplasia 13
598 c VSC042 Vesicoureteral Reflux 5 13
599 c VSC043 Vesicoureteral Reflux 6 13
600 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 13
601 c ACR115 Acrorenal Syndrome, Autosomal Recessive 13
602 HLL014 Hallux Varus and Preaxial Polysyndactyly 13
603 c ORF024 Orofacial Cleft 9 13
604 CHR188 Chromosome 11q Duplication 13
605 c CTR176 Cataract, Age-Related Nuclear 13
606 CRY037 Cryptophthalmia 13
607 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 13
608 ART130 Arthrogryposis with Hyperkeratosis 13
609 GZR001 Guizar Vasquez Sanchez Manzano Syndrome 13
610 PRT184 Partial Deletion of the Long Arm of Chromosome 11 13
611 ACC011 Accessory Mitral Valve Tissue 13
612 CLF019 Cleft Palate Short Stature Vertebral Anomalies 13
613 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 13
614 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 13
615 URC012 Urachal Sinus 13
616 MDR001 Medeira-Dennis-Donnai Syndrome 13
617 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 13
618 DST054 Distal 17p13.3 Microdeletion Syndrome 13
619 20Q002 20q11.2 Microduplication Syndrome 13
620 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 13
621 ANN015 Anonychia with Flexural Pigmentation 13
622 c PRV013 Periventricular Nodular Heterotopia 3 13
623 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 13
624 P CNG326 Congenital Primary Megaureter 12
625 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 12
626 PRT087 Parietal Encephalocele 12
627 XQ1001 Xq12-Q13.3 Duplication Syndrome 12
628 CRN087 Craniomicromelic Syndrome 12
629 PST111 Posterior Fossa Malformation 12
630 LPM011 Lip, Median Nodule of Upper 12
631 CRN204 Craniofacial Conodysplasia 12
632 c MTR057 Maternal Uniparental Disomy of Chromosome X 12
633 PRT213 Partial Duplication of Chromosome 19 12
634 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 12
635 CNG519 Congenital Gerbode Defect 12
636 PRC041 Pericardial and Diaphragmatic Defect 12
637 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 12
638 MTR084 Maternal Hyperthermia-Induced Birth Defects 12
639 PRT186 Partial Duplication of the Long Arm of Chromosome X 12
640 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 12
641 c UNP004 Uniparental Disomy of Chromosome 2 12
642 INT294 Intellectual Disability-Short Stature-Hypertelorism Syndrome 12
643 c PRM168 Primary Syringomyelia 11
644 P ISL045 Isolated Focal Cortical Dysplasia Type I 11
645 THR083 Third Branchial Cleft Anomaly 11
646 XLN142 X-Linked Intellectual Disability, Stevenson Type 11
647 GLS016 Glossopalatine Ankylosis 11
648 TNN014 Tunnel Subaortic Stenosis 11
649 c EZH001 Ezh2-Related Overgrowth 11
650 LTR017 Lateral Facial Cleft 11
651 SBC038 Sub-Cortical Nodular Heterotopia 11
652 FRY005 Fryns Smeets Thiry Syndrome 11
653 DYS208 Dysostosis with Brachydactyly 11
654 TRC112 Trochlea of the Humerus, Aplasia of 11
655 ACR121 Acromelic Dysplasia 11
656 CRV060 Cervical Dermoid Cyst 11
657 DPL010 Duplication of the Esophagus 11
658 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 11
659 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
660 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 11
661 MSC088 Mosaic Trisomy 5 10
662 CNG575 Congenital Joint Dislocations 10
663 PRT163 Partial Deletion of the Short Arm of Chromosome 5 10
664 MSC087 Mosaic Trisomy 4 10
665 SXC004 Sex Chromosome Disorder of Sex Development 10
666 HYP852 Hypocalcemic Rickets 10
667 c CHR232 Chromosome 21, Uniparental Disomy 10
668 ODN004 Odonto Onycho Dysplasia with Alopecia 10
669 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 10
670 ISC019 Ischiovertebral Syndrome 10
671 c PTR015 Paternal Uniparental Disomy of Chromosome X 10
672 CNG244 Congenital Laryngeal Cyst 10
673 PRT144 Partial Deletion of Chromosome 2 10
674 CNG279 Congenital Pseudoarthrosis of the Ulna 10
675 PRT185 Partial Deletion of the Long Arm of Chromosome 13 10
676 c HVP001 Hivep2-Related Intellectual Disability 10
677 CRN310 Cranial Malformation 10
678 SYM014 Symbrachydactyly of Hands and Feet 10
679 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 10
680 DST078 Distal Trisomy 6q 10
681 c EDR001 Eed-Related Overgrowth 10
682 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 10
683 c PTR019 Paternal Uniparental Disomy of Chromosome 5 10
684 PRT162 Partial Deletion of the Short Arm of Chromosome 6 9
685 c PRT205 Partial Trisomy of the Long Arm of Chromosome 5 9
686 c LRY051 Laryngotracheoesophageal Cleft Type 1 9
687 c CHR201 Chromosome 16, Uniparental Disomy 9
688 LWR014 Lower Limb Hypertrophy 9
689 DST085 Distal Trisomy 2q 9
690 PRT153 Partial Deletion of Chromosome 11 9
691 MCR184 Macrodactyly of Fingers 9
692 CNG278 Congenital Pseudoarthrosis of the Radius 9
693 PRT202 Partial Duplication of the Long Arm of Chromosome 6 9
694 DYS128 Dysplasia of Head of Femur, Meyer Type 9
695 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 9
696 c UNP010 Uniparental Disomy of Chromosome 13 9
697 P HRN027 Hernia, Anterior Diaphragmatic 9
698 PRT179 Partial Deletion of the Long Arm of Chromosome 6 9
699 c ATS403 Autosomal Dominant Intellectual Disability 40 9
700 MLH001 Melhem Fahl Syndrome 9
701 SYN027 Syngnathia Cleft Palate 9
702 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 9
703 ATS453 Autosomal Anomaly 9
704 PRT169 Partial Deletion of the Short Arm of Chromosome 11 9
705 PRT236 Partial Deletion of the Long Arm of Chromosome 15 9
706 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 9
707 ECT107 Ectasia of the Left Atrial Appendage 9
708 PRT159 Partial Deletion of the Short Arm of Chromosome 1 9
709 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
710 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 8
711 PRS112 Persistent Eustachian Valve 8
712 PRT207 Partial Duplication of the Short Arm of Chromosome 7 8
713 PRT219 Partial Duplication of the Short Arm of Chromosome 6 8
714 c BRC035 Brachydactyly Type A5 8
715 PRT166 Partial Deletion of the Short Arm of Chromosome 10 8
716 PRT145 Partial Deletion of Chromosome 3 8
717 PRT167 Partial Deletion of the Short Arm of Chromosome 9 8
718 PRT208 Partial Duplication of the Short Arm of Chromosome 8 8
719 PRT239 Partial Deletion of the Long Arm of Chromosome 18 8
720 TRG018 Trigonocephaly-Broad Thumbs Syndrome 8
721 3Q2004 3q26 Microduplication Syndrome 8
722 DST090 Distal Trisomy 2p 8
723 PRT230 Partial Duplication of Chromosome 3 8
724 PRT225 Partial Duplication of Chromosome 17 8
725 CNG334 Congenital Esophageal Diverticulum 8
726 CNG586 Congenital Tricuspid Valve Dysplasia 8
727 ISL028 Isolated Cerebellar Vermis Hypoplasia 8
728 ISL108 Isolated Splenogonadal Fusion 8
729 c ATS360 Autosomal Recessive Intellectual Disability 58 7
730 BLK004 Blake Pouch Cyst 7
731 PRT226 Partial Duplication of Chromosome 16 7
732 MCP029 Mucopolysaccharidosis Type 6, Rapidly Progressing 7
733 P VRC007 Varicella, Severe Recurrent 7
734 PRT199 Partial Duplication of the Long Arm of Chromosome 13 7
735 P ISC012 Isochromosome Y 7
736 PRT151 Partial Deletion of Chromosome 16 7
737 PRT154 Partial Deletion of Chromosome 18 7
738 c KRN003 Kernicterus Due to Isoimmunization 7
739 PRT175 Partial Deletion of the Long Arm of Chromosome 2 7
740 c PRT182 Partial Monosomy of the Long Arm of Chromosome 9 7
741 DST087 Distal Trisomy 7p 7
742 ISL034 Isolated Megalencephaly 7
743 BPR001 Bipartite Talus 7
744 CNG107 Congenital Mitral Malformation 6
745 MLF005 Malformation Syndrome with Short Stature 6
746 14Q003 14q11.2 Microduplication Syndrome 6
747 c PRT190 Partial Trisomy of the Long Arm of Chromosome 18 6
748 c MTR079 Maternal Uniparental Disomy of Chromosome 13 6
749 DST088 Distal Trisomy 1p36 6
750 ART161 Aortic Malformation 6
751 BNL004 Benallegue Lacete Syndrome 6
752 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 6
753 PRT150 Partial Deletion of the Long Arm of Chromosome 12 6
754 PRT216 Partial Trisomy of Chromosome 20 6
755 PRT223 Partial Duplication of Chromosome 11 6
756 PRT242 Partial Deletion of the Long Arm of Chromosome 21 6
757 DST058 Distal Monosomy 12p 6
758 CNG287 Congenital Absence of Both Forearm and Hand 6
759 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 6
760 1P3003 1p35.2 Microdeletion Syndrome 6
761 DST075 Distal Trisomy 16q 6
762 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 6
763 DZX005 Diazoxide-Resistant Hyperinsulinism 6
764 UPP009 Upper Limb Hypertrophy 6
765 HMR031 Humeral Agenesis/hypoplasia 6
766 7Q3001 7q31 Microdeletion Syndrome 6
767 OKH001 Okihiro Syndrome Due to a Point Mutation 6
768 PRT222 Partial Duplication of Chromosome 8 6
769 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
770 c PTR020 Paternal Uniparental Disomy of Chromosome 20 6
771 c PTR022 Paternal Uniparental Disomy of Chromosome 7 6
772 DZX004 Diazoxide-Sensitive Diffuse Hyperinsulinism 5
773 PRT141 Partial Deletion of Chromosome 1 5
774 PRT158 Partial Deletion of the Short Arm of Chromosome 2 5
775 PRT168 Partial Deletion of the Short Arm of Chromosome 16 5
776 PRT172 Partial Deletion of the Short Arm of Chromosome 19 5
777 PRT176 Partial Deletion of the Long Arm of Chromosome 3 5
778 PRT192 Partial Duplication of the Long Arm of Chromosome 22 5
779 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 5
780 DST083 Distal Trisomy 9q 5
781 CHR512 Cheirospondyloenchondromatosis 5
782 DSC011 Discrete Fibromuscular Subaortic Stenosis 5
783 SYN148 Syndromic Aniridia 5
784 MLF009 Malformation of the Cerebellar Vermis 5
785 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 5
786 PRT148 Partial Deletion of Chromosome 6 5
787 PRT155 Partial Deletion of Chromosome 17 5
788 PRT229 Partial Duplication of Chromosome 2 5
789 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 5
790 PHK010 Phakomatosis Spilorosea 5
791 PRT249 Partial Autosomal Monosomy 5
792 DST067 Distal Monosomy 14q 5
793 PRT253 Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia 5
794 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
795 PRT195 Partial Duplication of the Long Arm of Chromosome 8 5
796 PRT198 Partial Duplication of the Long Arm of Chromosome 14 5
797 PRT240 Partial Deletion of the Long Arm of Chromosome 19 5
798 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 5
799 2P1003 2p13.2 Microdeletion Syndrome 5
800 PRT109 Partially Involuting Congenital Hemangioma 5
801 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 5
802 ACR083 Acrofacial Dysostosis, Kennedy-Teebi Type 5
803 DST073 Distal Monosomy 7p 5
804 CNG353 Congenital Partial Agenesis of Pericardium 5
805 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 5
806 ISL079 Isolated Encephalocele 5
807 NNT001 Neonatal Infective Mastitis 5
808 SYN097 Syndromic Urogenital Tract Malformation 5
809 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 5
810 c CHR251 Chromosome 5, Uniparental Disomy 4
811 OPN003 Open Iniencephaly 4
812 CLS021 Closed Iniencephaly 4
813 SYN168 Syndrome with a Cerebellar Malformation As a Major Feature 4
814 SYN143 Syndromic Telecanthus 4
815 ATR096 Atrioventricular Valve Anomaly 4
816 LWM001 Low Implantation of Placenta 4
817 c TSS003 Tessier Number 6 Facial Cleft 4
818 MCR188 Macrodactyly of Fingers, Unilateral 4
819 MCR190 Macrodactyly of Toes, Unilateral 4
820 CDL007 Caudal Regression-Sirenomelia Spectrum 4
821 4Q2002 4q25 Proximal Deletion Syndrome 4
822 MLT175 Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability 4
823 c CNG593 Congenital Mitral Valve Insufficiency and/or Stenosis 4
824 PRT210 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 4
825 PRT220 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 4
826 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 4
827 ISL051 Isolated Partial Cerebellar Vermis Agenesis 4
828 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 4
829 CNG269 Congenital Primary Megaureter, Refluxing Form 4
830 CNG270 Congenital Primary Megaureter, Obstructed Form 4
831 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
832 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 4
833 CNG569 Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature 4
834 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 4
835 RDL019 Radio-Ulnar Synostosis, Unilateral 4
836 HMR037 Humero-Ulnar Synostosis, Bilateral 4
837 APR011 Aprosencephaly/atelencephaly Spectrum 4
838 ISL130 Isolated Congenital Entropion 4
839 TRC084 Tricuspid Valve Agenesis 4
840 MLF008 Malformation of the Cerebellar Hemispheres 4
841 OTH025 Other Syndrome with Lissencephaly As a Major Feature 4
842 c XND001 X and Y Chromosomal Anomaly 4
843 CNG606 Congenital Aortic Valve Dysplasia 4
844 c CTR008 Cataract Congenital Autosomal Dominant 4
845 HYP178 Hyperthermia Induced Defects 4
846 c XCH002 X Chromosome Number Anomaly 4
847 PRT233 Partial Duplication of Chromosome 6 4
848 HMZ005 Homozygous 2p21 Microdeletion Syndrome 4
849 CNG316 Congenital Vertical Talus, Bilateral 4
850 MCR189 Macrodactyly of Toes, Bilateral 4
851 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
852 SYN162 Syndromic Esophageal Malformation 4
853 c CRN093 Craniosynostosis Autosomal Dominant 3
854 c SYN028 Syngnathia Multiple Anomalies 3
855 c INT350 Intermediate Isolated Anorectal Malformation 3
856 SYN102 Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature 3
857 SYN166 Syndrome with a Dandy-Walker Malformation As a Major Feature 3
858 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
859 JNT005 Joint Formation Defects 3
860 AML036 Amelia of Lower Limb 3
861 ISL127 Isolated Blepharochalasis 3
862 ISL132 Isolated Megalopapilla 3
863 ANT090 Anterior Segment Developmental Abnormality with Extraocular Manifestations 3
864 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 3
865 STR076 Straddling and/or Overriding Mitral Valve 3
866 CNG360 Congenital Unguarded Mitral Orifice 3
867 SYN145 Syndromic Epicanthus 3
868 ANT094 Anterior Segment Developmental Anomaly Without Extraocular Manifestations 3
869 c GLC033 Glaucoma, Hereditary Adult Type 1a 3
870 c FRG006 Fragile X Syndrome Type 3 3
871 c OCL037 Oculodentodigital Dysplasia Dominant 3
872 c HYD017 Hydrocephalus Autosomal Recessive 3
873 PRL049 Paralytic Facial Malformation 3
874 P YCH005 Y Chromosome Number Anomaly 3
875 CNG317 Congenital Genu Flexum 3
876 CNG321 Congenital Elbow Dislocation, Bilateral 3
877 CNG322 Congenital Elbow Dislocation, Unilateral 3
878 c TTL013 Total Autosomal Trisomy 3
879 SXC005 Sex-Chromosome Number Anomaly 3
880 P CHR690 Chromosome Y Structural Anomaly 3
881 MLF007 Malformation Syndrome with Hamartosis 3
882 NNS065 Non-Syndromic Diaphragmatic or Abdominal Wall Malformation 3
883 c BMN003 Biemond Syndrome Type 1 3
884 NNS049 Non-Syndromic Uterovaginal Malformation 3
885 GLP005 Glioependymal/ependymal Cyst 3
886 DYS201 Dysostosis with Limb and Face Anomalies As a Major Feature 3
887 SYN119 Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy 3
888 DYS206 Dysostosis with Brachydactyly with Extraskeletal Manifestations 3
889 NNS056 Non-Syndromic Complex Polydactyly 3
890 CMP099 Complete Hemimelia 3
891 DYS210 Dysostosis with Predominant Craniofacial Involvement 3
892 CLD020 Cleidocranial Dysplasia and Isolated Cranial Ossification Defect 3
893 SYN142 Syndrome with Synostosis or Other Joint Formation Defect 3
894 MSM021 Mesomelic and Rhizo-Mesomelic Dysplasia 3
895 NNS052 Non-Syndromic Urogenital Tract Malformation of Male and Female 2
896 SYN107 Syndrome or Malformation Associated with Head and Neck Malformations 2
897 XCH001 X Chromosome Number Anomaly with Male Phenotype 2
898 XCH003 X Chromosome Number Anomaly with Female Phenotype 2
899 NNS053 Non Syndromic Limb Overgrowth 2
900 CHR693 Chromosomal Disease with Overgrowth 2
901 NNS066 Non-Syndromic Visceral Malformation 2
902 NNS069 Non-Syndromic Esophageal Malformation 2
903 EMB004 Embryonal Carcinoma 56
904 c WLM013 Wilms Tumor 1 66
905 c WLM018 Wilms Tumor 5 53
906 P HRD009 Hereditary Wilms' Tumor 28
907 c FML094 Familial Wilms Tumor 2 25
908 c WLM011 Wilms Tumor 6 25
909 c WLM005 Wilms Tumor 2 25
910 c WLM017 Wilms Tumor 4 18
911 c WLM015 Wilms Tumor 3 17
912 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 42
913 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 25
914 P CNT003 Central Nervous System Embryonal Carcinoma 10
915 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 22
916 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 16
917 P EPN001 Ependymoblastoma 44
918 c ADL045 Adult Ependymoblastoma 14
919 TRT001 Teratocarcinoma 42
920 P END039 Endodermal Sinus Tumor 41
921 c ADL047 Adult Endodermal Sinus Tumor 7
922 P LFT003 Left Ventricular Noncompaction 57
923 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 44
924 c LFT021 Left Ventricular Noncompaction 1 44
925 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 38
926 EMB002 Embryoma 37
927 P BTR001 Botryoid Rhabdomyosarcoma 36
928 c LFT018 Left Ventricular Noncompaction 10 28
929 c LFT017 Left Ventricular Noncompaction 8 27
930 c LFT020 Left Ventricular Noncompaction 7 19
931 c LFT011 Left Ventricular Noncompaction 2 17
932 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 16
933 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 11
934 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
935 c HYD046 Hydatidiform Mole, Recurrent, 1 59
936 GRM005 Germ Cell Cancer 46
937 EMB007 Embryonal Sarcoma 40
938 P RCR026 Recurrent Hydatidiform Mole 26
939 PRV001 Parovarian Cyst 22
940 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 22
941 CNT115 Central Nervous System Embryonal Tumor 21
942 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
943 HYD069 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism 10
944 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
945 RRG014 Rare Genetic Developmental Defect During Embryogenesis 5
946 EMB017 Embryonal Tumor of Neuroepithelial Tissue 3
947 FTL017 Fetal Enterovirus Syndrome 2
948 NRL016 Neural Tube Defects 81
949 PHN003 Phenylketonuria 76
950 P OST002 Osteoporosis 76
951 P OST001 Osteopetrosis 71
952 c MYT021 Myotonic Dystrophy 1 68
953 P RTH006 Rothmund-Thomson Syndrome, Type 2 67
954 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66
955 c CNG012 Congenital Generalized Lipodystrophy 65
956 P KBK002 Kabuki Syndrome 1 65
957 P ANG001 Angelman Syndrome 65
958 ART001 Arterial Tortuosity Syndrome 65
959 P CRN038 Carney Complex Variant 64
960 ANG020 Angiosarcoma 64
961 P TRC072 Treacher Collins Syndrome 1 62
962 c INT072 Intestinal Pseudo-Obstruction 62
963 HJD001 Hajdu-Cheney Syndrome 62
964 P BTH005 Bethlem Myopathy 1 62
965 P HYD006 Hydrocephalus 61
966 c CRN139 Cornelia De Lange Syndrome 1 61
967 OST024 Osteoporosis-Pseudoglioma Syndrome 60
968 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 59
969 P RBL001 Rubella 58
970 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 58
971 RGH009 Right Atrial Isomerism 57
972 CRN005 Craniofrontonasal Syndrome 57
973 HRL004 Hurler-Scheie Syndrome 57
974 DBL002 Double Outlet Right Ventricle 57
975 c VSC019 Vesicoureteral Reflux 1 57
976 PLC005 Placental Insufficiency 56
977 ANS023 Anus, Imperforate 56
978 c PRX059 Peroxisome Biogenesis Disorder 1a 56
979 P AML002 Amelogenesis Imperfecta 56
980 P MLT007 Multiple Epiphyseal Dysplasia 56
981 P PSD015 Pseudohypoparathyroidism 55
982 PYC001 Pycnodysostosis 55
983 c HYP292 Hypophosphatasia, Infantile 55
984 c CRN278 Craniosynostosis 1 55
985 P ATR001 Atrioventricular Septal Defect 55
986 CMP034 Complete Androgen Insensitivity Syndrome 55
987 DXT001 Dextrocardia 55
988 P CCH009 Coach Syndrome 1 54
989 P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54
990 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 54
991 OCC006 Occipital Horn Syndrome 54
992 c NLD009 Nail Disorder, Nonsyndromic Congenital, 1 54
993 CLB010 Coloboma of Macula 53
994 c WRD033 Waardenburg Syndrome, Type 2e 53
995 c CNG216 Congenital Hydrocephalus 53
996 c SPN294 Spinocerebellar Ataxia 1 53
997 c AML044 Amelogenesis Imperfecta, Type Ig 53
998 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 53
999 NNT012 Neonatal Jaundice 53
1000 LTR009 Lateral Meningocele Syndrome 53
1001 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 53
1002 P CRN276 Corneal Endothelial Dystrophy 53
1003 OCL039 Oculoectodermal Syndrome 52
1004 MCR165 Microphthalmia with Limb Anomalies 52
1005 NRL002 Neurilemmomatosis 52
1006 c 46X082 46,xy Sex Reversal 52
1007 MLB001 Mulibrey Nanism 52
1008 P PRS049 Persistent Mullerian Duct Syndrome 52
1009 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 52
1010 c HYD064 Hydrocephalus, Congenital, 1 51
1011 c HYP293 Hypophosphatasia, Adult 51
1012 c PNC106 Pancreatic Agenesis 1 51
1013 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 51
1014 ACR013 Acrodysostosis 51
1015 P JVN008 Juvenile Glaucoma 50
1016 LPD016 Lipoid Proteinosis of Urbach and Wiethe 50
1017 WYR002 Weyers Acrofacial Dysostosis 50
1018 ACR043 Acromicric Dysplasia 50
1019 VTR016 Vater/vacterl Association 49
1020 PLM070 Pulmonic Stenosis 49
1021 ACR002 Acrocapitofemoral Dysplasia 49
1022 DND001 Dandy-Walker Syndrome 49
1023 BHR002 Bohring-Opitz Syndrome 48
1024 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 48
1025 P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48
1026 c BRC081 Brachydactyly, Type C 48
1027 c ACH033 Achondrogenesis, Type Ia 48
1028 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
1029 47X002 47,xyy 48
1030 c DSB006 Desbuquois Dysplasia 1 48
1031 MTC018 Metachondromatosis 48
1032 P OMP004 Omphalocele 48
1033 c NNN010 Noonan Syndrome 3 47
1034 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 47
1035 c SCL045 Sclerosteosis 1 47
1036 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 47
1037 OST062 Osteoarthritis with Mild Chondrodysplasia 47
1038 DYG001 Dyggve-Melchior-Clausen Disease 47
1039 CKT002 Cakut 47
1040 BNT003 Bent Bone Dysplasia Syndrome 46
1041 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 46
1042 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 46
1043 c HYP543 Hypoplastic Left Heart Syndrome 1 46
1044 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 46
1045 LRN006 Laurin-Sandrow Syndrome 46
1046 MDD010 Middle Ear Disease 46
1047 c HLP016 Holoprosencephaly 11 46
1048 c BRT050 Bartter Syndrome, Type 2, Antenatal 46
1049 c XLN229 X-Linked Chondrodysplasia Punctata 2 46
1050 CHR222 Chromosome 1p36 Deletion Syndrome 45
1051 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 45
1052 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 45
1053 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
1054 c ZLL011 Zellweger Spectrum Disorder 45
1055 c XFP001 Xfe Progeroid Syndrome 45
1056 ABR009 Abruzzo-Erickson Syndrome 45
1057 LNZ003 Lenz-Majewski Hyperostotic Dwarfism 44
1058 c JBR024 Joubert Syndrome 14 44
1059 ACR011 Acromesomelic Dysplasia, Maroteaux Type 44
1060 c DFN136 Deafness, Autosomal Dominant 9 44
1061 MCR096 Macrocephaly/autism Syndrome 44
1062 c DVL034 Developmental and Epileptic Encephalopathy 3 44
1063 DYS018 Dysostosis 44
1064 SCH030 Schneckenbecken Dysplasia 44
1065 c EPP013 Epiphyseal Dysplasia, Multiple, 5 44
1066 P EPT020 Epithelioid Hemangioendothelioma 44
1067 BLD170 Bladder Exstrophy and Epispadias Complex 43
1068 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 43
1069 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 43
1070 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
1071 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 43
1072 ARC008 Auriculo-Condylar Syndrome 43
1073 BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 43
1074 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
1075 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
1076 P CRN013 Craniodiaphyseal Dysplasia 43
1077 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 43
1078 STL007 Steel Syndrome 42
1079 c WRB004 Warburg Micro Syndrome 3 42
1080 CHR667 Chromosome 3pter-P25 Deletion Syndrome 42
1081 CLF056 Cleft Lip with or Without Cleft Palate 42
1082 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 42
1083 c WLL036 Weill-Marchesani Syndrome 1 42
1084 c OST118 Osteogenesis Imperfecta, Type Viii 42
1085 P CRN074 Coronary Artery Aneurysm 42
1086 NVL003 Nivelon-Nivelon-Mabille Syndrome 42
1087 c OST106 Osteopetrosis, Autosomal Recessive 8 41
1088 HMH004 Hemihyperplasia, Isolated 41
1089 GNT031 Genitopatellar Syndrome 41
1090 ELS006 Elsahy-Waters Syndrome 41
1091 P CHR342 Chiari Malformation 41
1092 c EPP012 Epiphyseal Dysplasia, Multiple, 2 41
1093 P WRB001 Warburg Micro Syndrome 41
1094 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 41
1095 END059 Endocrine-Cerebroosteodysplasia 41
1096 P OTF004 Otofaciocervical Syndrome 1 41
1097 TTH004 Tethered Spinal Cord Syndrome 41
1098 c BRC052 Brachydactyly, Type B2 40
1099 c 46X055 46,xy Sex Reversal 3 40
1100 P HRD086 Hereditary Hypophosphatemic Rickets 40
1101 49X006 49, Xxxxy Syndrome 40
1102 c SCL042 Sclerosteosis 2 40
1103 LCR013 Lacrimal Duct Defect 40
1104 P MCR364 Macrodactyly 40
1105 CHR518 Chromosome 9p Deletion Syndrome 40
1106 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 40
1107 MJD001 Majeed Syndrome 40
1108 BLR027 Blue Rubber Bleb Nevus 40
1109 c MCR312 Microphthalmia, Syndromic 10 40
1110 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 39
1111 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 39
1112 c ANT085 Anterior Segment Dysgenesis 5 39
1113 EKN001 Eiken Syndrome 39
1114 OLG021 Oligomeganephronia 39
1115 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
1116 VNT030 Ventriculomegaly with Cystic Kidney Disease 39
1117 HMM004 Hamamy Syndrome 39
1118 c MCR122 Microphthalmia, Isolated 5 39
1119 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39
1120 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 39
1121 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 38
1122 VLP002 Valproate Embryopathy 38
1123 c CNG497 Congenital Disorder of Glycosylation, Type Iio 38
1124 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 38
1125 c PGT007 Paget Disease of Bone 3 38
1126 P MTP001 Metaphyseal Dysplasia 38
1127 c EPP015 Epiphyseal Dysplasia, Multiple, 3 38
1128 CLF028 Cleft Soft Palate 38
1129 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 38
1130 TRG019 Trigonocephaly with Short Stature and Developmental Delay 38
1131 c LSS010 Lissencephaly 4 38
1132 HLZ001 Holzgreve Syndrome 38
1133 c LSS009 Lissencephaly 3 38
1134 c NNN009 Noonan Syndrome 2 38
1135 CRD017 Cardiac Valvular Dysplasia, X-Linked 38
1136 ISL062 Isolated Plagiocephaly 37
1137 c DNT021 Dent Disease 2 37
1138 c BRC080 Brachydactyly, Type A1, B 37
1139 c PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 37
1140 c DNR003 Duane Retraction Syndrome 1 37
1141 P ACR106 Acrocephalopolysyndactyly Type Iii 37
1142 CHR387 Chromosome Xp21 Deletion Syndrome 37
1143 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 36
1144 c ORF038 Orofaciodigital Syndrome Iii 36
1145 P OVR075 Ovarian Dysgenesis 1 36
1146 c SCN006 Secondary Syphilis 36
1147 P ANT061 Antenatal Bartter Syndrome 36
1148 c SPL033 Split-Hand/foot Malformation 6 36
1149 BLR028 Biliary Atresia, Extrahepatic 36
1150 ISL087 Isolated Oxycephaly 36
1151 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 36
1152 c DVL050 Developmental and Epileptic Encephalopathy 24 36
1153 NNT004 Neonatal Respiratory Failure 36
1154 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
1155 GST052 Gestational Choriocarcinoma 35
1156 c DFN114 Deafness, Autosomal Recessive 67 35
1157 c PNT033 Pontocerebellar Hypoplasia, Type 10 35
1158 c DFN182 Deafness, Autosomal Recessive 71 35
1159 c MYS067 Myasthenic Syndrome, Congenital, 22 35
1160 P BRC003 Brachyolmia 35
1161 MHR002 Mohr Syndrome 35
1162 c MYS056 Myasthenic Syndrome, Congenital, 17 35
1163 c DFN269 Deafness, Autosomal Recessive 98 35
1164 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 35
1165 RFM001 Roifman Syndrome 35
1166 c EPP009 Epiphyseal Dysplasia, Multiple, 6 35
1167 c MNS014 Monosomy 22 35
1168 DYS048 Dysplasia Epiphysealis Hemimelica 35
1169 ACR016 Acromesomelic Dysplasia 35
1170 c CTR145 Cataract 44 35
1171 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 35
1172 CHR225 Chromosome 1q21.1 Duplication Syndrome 34
1173 c PGT009 Paget Disease of Bone 2, Early-Onset 34
1174 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 34
1175 c WLL037 Weill-Marchesani Syndrome 2 34
1176 c CTR183 Cataract 38 34
1177 GBR007 Gabriele-De Vries Syndrome 34
1178 P ATL001 Atelosteogenesis 34
1179 MTP028 Metaphyseal Dysplasia, Spahr Type 34
1180 P CHR084 Chromosomal Disease 34
1181 PST063 Postsynaptic Congenital Myasthenic Syndromes 34
1182 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 34
1183 c 46X057 46,xy Sex Reversal 8 34
1184 c SMT018 Smith-Mccort Dysplasia 2 34
1185 WTT002 Witteveen-Kolk Syndrome 34
1186 CNG429 Congenital Myasthenic Syndromes with Glycosylation Defect 33
1187 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33
1188 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 33
1189 c TBL032 Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 33
1190 MYP038 Myopathy, Congenital, Compton-North 33
1191 c DFN095 Deafness, Autosomal Recessive 25 33
1192 c ADM007 Adams-Oliver Syndrome 2 33
1193 c LTC001 Late Congenital Syphilis 33
1194 MSC020 Mosaic Trisomy 8 32
1195 CLF049 Cleft Lip and Alveolus 32
1196 P PLM182 Pulmonary Hypoplasia, Primary 32
1197 P SCL047 Sclerocornea 32
1198 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 32
1199 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 32
1200 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 32
1201 c SLV028 Silver-Russell Syndrome 3 32
1202 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 32
1203 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 32
1204 CYS021 Cystic Adenomatoid Malformation of Lung 32
1205 c GLC083 Glaucoma 3, Primary Infantile, B 32
1206 c FRS015 Fraser Syndrome 3 32
1207 AMN014 Aminopterin Syndrome Sine Aminopterin 32
1208 MTC100 Metacarpal 4-5 Fusion 31
1209 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 31
1210 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 31
1211 ORF053 Orofacial Clefting Syndrome 31
1212 DST008 Diastematomyelia 31
1213 CYS041 Cystic Angiomatosis of Bone, Diffuse 31
1214 CDL005 Caudal Duplication Anomaly 31
1215 c OST169 Osteogenesis Imperfecta, Type Xviii 31
1216 ART165 Arthrogryposis Multiplex Congenita 3, Myogenic Type 31
1217 FMR018 Femoral-Facial Syndrome 31
1218 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 31
1219 c RNL125 Renal Tubular Acidosis, Distal, 1 31
1220 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 31
1221 ERL027 Early-Onset Non-Syndromic Cataract 31
1222 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 31
1223 STP011 Stapes Ankylosis with Broad Thumbs and Toes 31
1224 c ORF036 Orofaciodigital Syndrome Xiv 30
1225 c OST138 Osteogenesis Imperfecta, Type Xvii 30
1226 c USH043 Usher Syndrome, Type Ih 30
1227 P HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 30
1228 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 30
1229 c ORF048 Orofacial Cleft 1 30
1230 c CLR134 Ciliary Dyskinesia, Primary, 3 30
1231 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 30
1232 ATY016 Atypical Werner Syndrome 29
1233 CHR524 Chromosome 16p13.3 Duplication Syndrome 29
1234 c FNC062 Fanconi Anemia, Complementation Group S 29
1235 ACR017 Acrofacial Dysostosis 29
1236 P MTR051 Maternal Uniparental Disomy of Chromosome 1 29
1237 NDL022 Nodular Neuronal Heterotopia 29
1238 c PRX046 Peroxisome Biogenesis Disorder 7a 29
1239 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 29
1240 HYP364 Hyperostosis Frontalis Interna 29
1241 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 29
1242 ISL061 Isolated Brachycephaly 29
1243 P CHR200 Chromosome 16 Trisomy 29
1244 c CWD008 Cowden Syndrome 6 29
1245 CHR229 Chromosome 20p Duplication 29
1246 c DFN276 Deafness, X-Linked 6 29
1247 PLT007 Palatopharyngeal Incompetence 29
1248 c SYM022 Symphalangism, Proximal, 1a 29
1249 P ERL043 Early-Onset Nuclear Cataract 29
1250 12Q002 12q14 Microdeletion Syndrome 29
1251 c RDL040 Radioulnar Synostosis, Nonsyndromic 29
1252 PRX085 Preaxial Hallucal Polydactyly 28
1253 P PLM069 Pulmonary Venous Return Anomaly 28
1254 TRC110 Tracheobronchial Stenosis, Congenital 28
1255 c DFN374 Deafness, Autosomal Recessive 100 28
1256 CHR399 Chromosome 4q21 Deletion Syndrome 28
1257 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
1258 FCL047 Facial Clefting, Oblique, 1 28
1259 c DNC007 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 28
1260 c RNG022 Ring Chromosome 6 28
1261 CHR379 Chromosome 15q26-Qter Deletion Syndrome 28
1262 c MCR212 Microphthalmia, Syndromic 12 28
1263 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 28
1264 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 28
1265 FBL014 Fibular Hemimelia 28
1266 CNG506 Congenital Amyoplasia 27
1267 CHR270 Chromosome 9p Duplication 27
1268 CHR265 Chromosome 8p Duplication 27
1269 FRN022 Frontofacionasal Dysplasia 27
1270 MSM004 Mesomelia-Synostoses Syndrome 27
1271 FCL078 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 27
1272 c PRX052 Peroxisome Biogenesis Disorder 13a 27
1273 c DFN146 Deafness, X-Linked 3 27
1274 16Q001 16q24.3 Microdeletion Syndrome 27
1275 NNN033 Noonan Syndrome and Noonan-Related Syndrome 27
1276 THR101 Thrombocytopenia, Paris-Trousseau Type 27
1277 WLL012 Williams-Beuren Region Duplication Syndrome 27
1278 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
1279 c BNM015 Bone Mineral Density Quantitative Trait Locus 18 27
1280 NBL001 Nablus Mask-Like Facial Syndrome 27
1281 CHR190 Chromosome 12p Duplication 27
1282 MCR067 Microcoria, Congenital 27
1283 P PRG139 Progeroid Syndrome 27
1284 YNH001 Yuan-Harel-Lupski Syndrome 27
1285 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 26
1286 HYP180 Hypertrichosis Lanuginosa Congenita 26
1287 ISL084 Isolated Trigonocephaly 26
1288 P RNL123 Renal Agenesis, Bilateral 26
1289 BLP041 Blepharochalasis and Double Lip 26
1290 CRL001 Cerulean Cataract 26
1291 UNL005 Unilateral Polymicrogyria 26
1292 CHR248 Chromosome 4p Duplication 26
1293 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 26
1294 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 26
1295 UNV002 Univentricular Heart 26
1296 TTR027 Tetrasomy 15q26 26
1297 c CLC056 Cole-Carpenter Syndrome 1 26
1298 HRY005 Hairy Elbows 26
1299 c RNG016 Ring Chromosome 20 26
1300 c CHR227 Chromosome 20 Trisomy 26
1301 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 26
1302 SNT004 Sinoatrial Node Dysfunction and Deafness 26
1303 OCC011 Occipital Encephalocele 26
1304 NNG001 Non-Gestational Choriocarcinoma 26
1305 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
1306 c RBN023 Robinow Syndrome, Autosomal Recessive 2 26
1307 c CWD004 Cowden Syndrome 5 26
1308 PNL023 Penile Agenesis 26
1309 CHR266 Chromosome 8p23.1 Deletion 26
1310 CRT028 Cor Triatriatum 25
1311 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 25
1312 c CHR565 Chromosomal Deletion Syndrome 25
1313 ART030 Aortic Arch Interruption 25
1314 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1315 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
1316 c PRR022 Perrault Syndrome 2 25
1317 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 25
1318 HGH023 High Bone Mass Osteogenesis Imperfecta 25
1319 CLN022 Colonic Atresia 25
1320 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 25
1321 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 25
1322 HRD037 Hardikar Syndrome 25
1323 CRN272 Craniometadiaphyseal Dysplasia 25
1324 c MRG012 Meier-Gorlin Syndrome 5 25
1325 c KLF002 Kleefstra Syndrome Due to a Point Mutation 25
1326 URC005 Urachal Cyst 25
1327 PNS015 Penoscrotal Transposition 25
1328 KPS005 Kaposiform Lymphangiomatosis 25
1329 c FCL046 Focal Facial Dermal Dysplasia 4 25
1330 c DFN030 Deafness, Autosomal Recessive 55 25
1331 c CWD009 Cowden Syndrome 7 24
1332 c PRX056 Peroxisome Biogenesis Disorder 11b 24
1333 ART164 Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect 24
1334 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 24
1335 c ORF023 Orofacial Cleft 4 24
1336 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 24
1337 RFM002 Roifman-Chitayat Syndrome 24
1338 NNG002 Non-Gestational Ovarian Choriocarcinoma 24
1339 P VTM003 Vitamin Metabolic Disorder 24
1340 DPL009 Duplication of the Pituitary Gland 24
1341 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 24
1342 c ORF028 Orofacial Cleft 10 24
1343 c CFF013 Coffin-Siris Syndrome 8 24
1344 THV001 Thauvin-Robinet-Faivre Syndrome 24
1345 c CTR157 Cataract 28 24
1346 HFN001 Hao-Fountain Syndrome 24
1347 ATR019 Atrial Septal Defect Sinus Venosus 24
1348 SCH055 Schilbach-Rott Syndrome 24
1349 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 24
1350 VRV001 Ververi-Brady Syndrome 24
1351 CGN001 Cogan-Reese Syndrome 24
1352 ACR101 Acrocraniofacial Dysostosis 24
1353 BCR002 Bicornuate Uterus 24
1354 CHR457 Chromosome 17p13.1 Deletion Syndrome 24
1355 FTL073 Fetal Anticonvulsant Syndrome 23
1356 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 23
1357 ACR039 Acromegaloid Hypertrichosis Syndrome 23
1358 P PHC014 Phocomelia 23
1359 PRT091 Partial Cryptophthalmia 23
1360 NVR001 Nievergelt Syndrome 23
1361 c THR096 Three M Syndrome 3 23
1362 CMP097 Complex Chromosomal Rearrangement 23
1363 FCC002 Faciocardiorenal Syndrome 23
1364 SPN445 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type 23
1365 ACL002 Acalvaria 23
1366 PRG122 Prognathism, Mandibular 23
1367 c DMN028 Diamond-Blackfan Anemia 12 23
1368 HRT018 Heart-Hand Syndrome, Slovenian Type 23
1369 c MCR217 Microphthalmia, Syndromic 11 23
1370 c CNT117 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b 23
1371 PRT131 Partial Trisomy Distal 4q 23
1372 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 23
1373 BLP009 Blepharonasofacial Malformation Syndrome 23
1374 OST117 Osteomesopyknosis 23
1375 DFN313 Deafness-Hypogonadism Syndrome 23
1376 NRF010 Neurofaciodigitorenal Syndrome 23
1377 FCL067 Focal Facial Dermal Dysplasia 1, Brauer Type 23
1378 c LKD022 Leukodystrophy, Hypomyelinating, 13 22
1379 PRP090 Peripheral Dysostosis 22
1380 c OMP009 Omphalocele, Autosomal 22
1381 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 22
1382 c NLD007 Nail Disorder, Nonsyndromic Congenital, 7 22
1383 c LYM147 Lymphatic Malformation 3 22
1384 c PSD121 Pseudo-Torch Syndrome 3 22
1385 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 22
1386 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 22
1387 c SYN088 Synpolydactyly 2 22
1388 CNG357 Congenital Symblepharon 22
1389 TTR019 Tetrasomy 5p 22
1390 2Q3005 2q31.1 Microdeletion Syndrome 22
1391 c ATR064 Atrioventricular Septal Defect 3 22
1392 BRN123 Branchial Arch Syndrome, X-Linked 22
1393 c HLP022 Holoprosencephaly 8 22
1394 c CTR169 Cataract 29 22
1395 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 22
1396 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1397 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
1398 TTR021 Tetrasomy 21 22
1399 c ANX011 Anauxetic Dysplasia 3 22
1400 CLB011 Coloboma of Macula with Type B Brachydactyly 22
1401 CHR241 Chromosome 2q24 Microdeletion Syndrome 22
1402 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 22
1403 6QT002 6q Terminal Deletion Syndrome 22
1404 8PN001 8p Inverted Duplication/deletion Syndrome 22
1405 c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 21
1406 c PTN013 Patent Ductus Arteriosus 2 21
1407 CRB211 Cerebral Cortical Dysplasia 21
1408 P ART034 Aortopulmonary Window 21
1409 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
1410 c JVN025 Juvenile Primary Osteoporosis 21
1411 PCM001 Pacman Dysplasia 21
1412 NTH002 Nathalie Syndrome 21
1413 MCR308 Microcephalic Primordial Dwarfism, Toriello Type 21
1414 JNT001 Joint Laxity, Familial 21
1415 ERL041 Early-Onset Zonular Cataract 21
1416 c AML059 Amelogenesis Imperfecta, Type Ij 21
1417 c CRN216 Craniosynostosis 5 21
1418 FTL018 Fetal Indomethacin Syndrome 21
1419 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 21
1420 P DNC006 Diencephalic-Mesencephalic Junction Dysplasia 20
1421 PHK008 Phakomatosis Cesioflammea 20
1422 THY106 Thyroglossal Duct Cyst, Familial 20
1423 c JBR038 Joubert Syndrome 27 20
1424 c DFN367 Deafness, Autosomal Recessive 110 20
1425 DRM042 Dermatoosteolysis, Kirghizian Type 20
1426 c CWD005 Cowden Syndrome 4 20
1427 ACR107 Acrofacial Dysostosis, Palagonia Type 20
1428 c ORT012 Orthostatic Hypotension 2 20
1429 FCL066 Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 20
1430 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 20
1431 CRT061 Cor Triatriatum Dexter 20
1432 P BFD001 Bifid Nose 20
1433 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 20
1434 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 20
1435 c ORF039 Orofaciodigital Syndrome Vii 20
1436 CHN040 Choanal Atresia and Lymphedema 20
1437 c LKD029 Leukodystrophy, Hypomyelinating, 16 20
1438 c GLC089 Glaucoma 3, Primary Congenital, E 20
1439 P RBN007 Rubinstein Taybi Like Syndrome 20
1440 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
1441 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 20
1442 IST006 Isotretinoin Syndrome 20
1443 DST044 Distal Trisomy 14q 20
1444 DST059 Distal Trisomy 17q 20
1445 19P001 19p13.12 Microdeletion Syndrome 19
1446 c RNG012 Ring Chromosome 17 19
1447 CHR612 Chromosome 15q14 Deletion Syndrome 19
1448 c ORF050 Orofacial Cleft 2 19
1449 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 19
1450 c BRN138 Branchiootorenal Spectrum Disorder 19
1451 ULN005 Ulna and Fibula, Hypoplasia of 19
1452 MZB001 Mazabraud Syndrome 19
1453 QDR002 Quadricuspid Aortic Valve 19
1454 c JBR048 Joubert Syndrome 36 19
1455 TRC114 Trichodental Dysplasia 19
1456 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 19
1457 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 19
1458 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 19
1459 HYD021 Hydrocephalus Obesity Hypogonadism 19
1460 UNL014 Unilateral Multicystic Dysplastic Kidney 19
1461 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 19
1462 c DFN333 Deafness, Autosomal Dominant 73 19
1463 ISL154 Isolated Exencephaly 19
1464 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 19
1465 c PRG093 Pregnancy Loss, Recurrent 3 19
1466 HMF007 Hemifacial Hyperplasia with Strabismus 19
1467 c ECT114 Ectodermal Dysplasia 10b 18
1468 BLT023 Bilateral Acute Depigmentation of the Iris 18
1469 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 18
1470 PYK001 Pyknoachondrogenesis 18
1471 CRV063 Cervical Spina Bifida Aperta 18
1472 PLD002 Pilodental Dysplasia with Refractive Errors 18
1473 c INH022 Inherited Ichthyosis 18
1474 21Q001 21q22.11q22.12 Microdeletion Syndrome 18
1475 MCR317 Macrophthalmia, Colobomatous, with Microcornea 18
1476 SBR011 Subaortic Stenosis--Short Stature Syndrome 18
1477 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 18
1478 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 18
1479 TRN017 Transient Neonatal Neutropenia 18
1480 c DFN382 Deafness, Autosomal Dominant 76 18
1481 P HRD043 Hereditary Congenital Facial Paresis 18
1482 MSC019 Mosaic Trisomy 7 18
1483 STT008 Steatocystoma Multiplex with Natal Teeth 18
1484 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 18
1485 MCR303 Macrosomia with Microphthalmia, Lethal 18
1486 CNG347 Congenital Tricuspid Stenosis 18
1487 LMB057 Lumbosacral Spina Bifida Aperta 18
1488 PLY133 Polysyndactyly with Cardiac Malformation 18
1489 c CRN068 Corneal Endothelial Dystrophy Type 2 18
1490 c HYD068 Hydatidiform Mole, Recurrent, 4 17
1491 5Q3001 5q35 Microduplication Syndrome 17
1492 SLV018 Silver-Russell Syndrome Due to 11p15 Microduplication 17
1493 16P003 16p13.11 Microdeletion Syndrome 17
1494 TBL027 Tubulinopathy-Associated Dysgyria 17
1495 c OVR118 Ovarian Dysgenesis 6 17
1496 CNG284 Congenital Pseudoarthrosis of the Tibia 17
1497 DBL010 Double-Orifice Mitral Valve 17
1498 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
1499 AMN013 Aminopterin/methotrexate Embryofetopathy 17
1500 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 17
1501 THR084 Thoracolumbosacral Spina Bifida Cystica 17
1502 UPP008 Upper Thoracic Spina Bifida Aperta 17
1503 c DFN385 Deafness, Autosomal Dominant 78 17
1504 MTH070 Methimazole Antenatal Exposure 17
1505 THR033 Thoracomelic Dysplasia 17
1506 TRG007 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 17
1507 TRC113 Trichoodontoonychial Dysplasia with Bone Deficiency 17
1508 c MTR063 Maternal Uniparental Disomy of Chromosome 2 17
1509 LSS034 Lissencephaly Type Iii and Bone Dysplasia 17
1510 1QD001 1q Duplications 16
1511 MSC079 Mosaic Trisomy 1 16
1512 BKS002 Book Syndrome 16
1513 RDL030 Radial-Renal Syndrome 16
1514 c PGT006 Paget Disease of Bone 4 16
1515 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 16
1516 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 16
1517 HRS037 Hirschsprung Disease with Type D Brachydactyly 16
1518 HND012 Handigodu Joint Disease 16
1519 49X005 49, Xxxyy Syndrome 16
1520 c JVN036 Juvenile Sialidosis Type 2 16
1521 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 16
1522 c RNG011 Ring Chromosome 16 16
1523 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 16
1524 DDL001 Didelphys Uterus 16
1525 ESS005 Essential Iris Atrophy 16
1526 ART091 Aorto-Ventricular Tunnel 16
1527 CLB008 Coloboma of Eye Lens 16
1528 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 16
1529 DYS049 Dysplastic Cortical Hyperostosis 16
1530 c CHR180 Chromosome 10, Uniparental Disomy 16
1531 HYP727 Hypoglossia with Situs Inversus 16
1532 c NLD010 Nail Disorder, Nonsyndromic Congenital, 6 16
1533 CMM018 Common Mesentery 16
1534 c ATS454 Autosomal Trisomy 16
1535 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1536 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 16
1537 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 16
1538 8P1001 8p11.2 Deletion Syndrome 15
1539 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 15
1540 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 15
1541 SPT015 Septate Vagina 15
1542 VLF001 Velofacioskeletal Syndrome 15
1543 8Q1001 8q12 Microduplication Syndrome 15
1544 XP2001 Xp22.3 Microdeletion Syndrome 15
1545 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 15
1546 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 15
1547 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
1548 c RNG031 Ring Chromosome Y Syndrome 15
1549 PRM334 Primary Bone Dysplasia with Increased Bone Density 15
1550 DST038 Distal Monosomy 7q36 15
1551 TRP023 Triphalangeal Thumbs and Dislocation of Patella 15
1552 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1553 c OLV005 Olivopontocerebellar Atrophy V 15
1554 20P001 20p12.3 Microdeletion Syndrome 15
1555 DST082 Distal Trisomy 10q 15
1556 c UNP011 Uniparental Disomy of Chromosome 14 15
1557 DST035 Distal Trisomy 18q 15
1558 CRD014 Cardiac Diverticulum 15
1559 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 15
1560 c ISC010 Isochromosome Yp 15
1561 EXT058 Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly 15
1562 CMP079 Complete Septate Uterus 15
1563 ISL118 Isolated Tracheoesophageal Fistula 15
1564 c SYN077 Syndromic X-Linked Intellectual Disability 12 15
1565 LNG102 Long-Thumb Brachydactyly Syndrome 15
1566 c GLL043 Galloway-Mowat Syndrome 2 15
1567 c BLN020 Blount Disease, Infantile 15
1568 ORL024 Oral and Digital Anomalies with Ichthyosis 15
1569 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 14
1570 c UNP012 Uniparental Disomy of Chromosome 7 14
1571 BWN005 Bowing of Long Bones Congenital 14
1572 ADC008 Adactylia, Unilateral 14
1573 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 14
1574 BLT020 Bilateral Multicystic Dysplastic Kidney 14
1575 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1576 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 14
1577 c HYP545 Hypospadias 3, Autosomal 14
1578 19P003 19p13.3 Microduplication Syndrome 14
1579 ESP040 Esophageal Duplication Cyst 14
1580 DST055 Distal 22q11.2 Microduplication Syndrome 14
1581 FRN047 Frontonasal Dysplasia with Alar Clefts 14
1582 MNS013 Monosomy 13q34 14
1583 c MTR060 Maternal Uniparental Disomy of Chromosome 9 14
1584 ANR045 Aneurysm of Interventricular Septum 14
1585 PRB002 Proboscis Lateralis 14
1586 MDL016 Midline Cervical Cleft 14
1587 c CLC009 Clcn7-Related Osteopetrosis 14
1588 BNK001 Banki Syndrome 14
1589 TRN046 Transverse Vaginal Septum 14
1590 PHL009 Phalangeal Microgeodic Syndrome 14
1591 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
1592 RNL109 Renal Hypoplasia, Bilateral 14
1593 6P2001 6p22 Microdeletion Syndrome 14
1594 PRM319 Primary Bone Dysplasia 14
1595 c DFN387 Deafness, Autosomal Recessive 116 14
1596 9Q2003 9q21.13 Microdeletion Syndrome 14
1597 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 14
1598 c SCN046 Secondary Short Bowel Syndrome 14
1599 10Q002 10q22.3q23.3 Microduplication Syndrome 13
1600 c MCR282 Microcephaly and Chorioretinopathy 1 13
1601 CCN010 Cocaine Embryofetopathy 13
1602 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 13
1603 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 13
1604 MSC078 Mosaic Trisomy 17 13
1605 HRN021 Hernández-Aguirre Negrete Syndrome 13
1606 CMP022 Camptodactyly Taurinuria 13
1607 CNT114 Central Nervous System Malformation 13
1608 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 13
1609 PHN013 Phenobarbital Antenatal Exposure 13
1610 PRT206 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 13
1611 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 13
1612 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 13
1613 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 13
1614 DST052 Distal 7q11.23 Microduplication Syndrome 13
1615 c UNP003 Uniparental Disomy of Chromosome 11 13
1616 RCT033 Rectal Duplication 13
1617 DST079 Distal Trisomy 5q 13
1618 PRT237 Partial Deletion of the Long Arm of Chromosome 16 13
1619 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1620 c CMP100 Campomelic Dysplasia and Related Disorders 12
1621 ISL111 Isolated Arrhinia 12
1622 c TRS033 Trisomy 18-Like Syndrome 12
1623 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 12
1624 ANM075 Anomalous Aortic Origin of Coronary Artery 12
1625 PST104 Postaxial Oligodactyly, Tetramelic 12
1626 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 12
1627 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 12
1628 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 12
1629 NND005 Non-Distal Trisomy 13q 12
1630 CNG235 Congenital Microgastria 12
1631 APR008 Aprosencephaly and Cerebellar Dysgenesis 12
1632 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 12
1633 CNG587 Congenital Limb Malformation 12
1634 RTN189 Retinal Capillary Malformation 12
1635 ANR041 Aniridia-Intellectual Disability Syndrome 12
1636 ANN018 Anonychia, Total, with Microcephaly 12
1637 CNG335 Congenital Ectropion Uveae 12
1638 MSC090 Mosaic Trisomy 3 12
1639 DST071 Distal Monosomy 19p13.3 12
1640 c ADL101 Adult-Onset Steinert Myotonic Dystrophy 12
1641 NND004 Non-Distal Monosomy 10q 12
1642 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 12
1643 LWR017 Lower Limb Malformation-Hypospadias Syndrome 12
1644 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1645 ART097 Aorto-Left Ventricular Tunnel 12
1646 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 12
1647 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
1648 LBR027 Laubry-Pezzi Syndrome 11
1649 c RRC022 Rare Chromosomal Anomaly 11
1650 c BFD005 Bifid Nose, Autosomal Recessive 11
1651 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 11
1652 MGC005 Megacystis-Megaureter Syndrome 11
1653 CNG282 Congenital Knee Dislocation 11
1654 FRN052 Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome 11
1655 XLN157 X-Linked Intellectual Disability, Porteous Type 11
1656 DYS044 Dysmorphism Cleft Palate Loose Skin 11
1657 P RRN017 Rare Intellectual Disability 11
1658 ACH028 Acheiria 11
1659 PRT200 Partial Duplication of the Long Arm of Chromosome 2 11
1660 c ZYG007 Zygodactyly Type 3 11
1661 c ORF006 Orofaciodigital Syndrome 13 11
1662 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 11
1663 PRT178 Partial Deletion of the Long Arm of Chromosome 5 11
1664 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 11
1665 PRT215 Partial Duplication of the Short Arm of Chromosome 2 10
1666 c ATS448 Autosomal Recessive Brachyolmia 10
1667 c CNG257 Congenital Pulmonary Sequestration 10
1668 MRN008 Marin-Amat Syndrome 10
1669 c CHR161 Chiari Malformation Type 3 10
1670 LFT022 Left Sided Atrial Isomerism 10
1671 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 10
1672 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 10
1673 PRM246 Primary Tethered Cord Syndrome 10
1674 MTP011 Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 10
1675 PRT204 Partial Duplication of the Long Arm of Chromosome 4 10
1676 FCL058 Facial Arteriovenous Malformation 10
1677 PRM302 Paramedian Facial Cleft 10
1678 c BFD004 Bifid Nose, Autosomal Dominant 10
1679 ONY006 Onychodystrophy-Anonychia 10
1680 RNL107 Renal Dysplasia, Bilateral 10
1681 DST089 Distal Trisomy 3p 10
1682 XLN147 X-Linked Intellectual Disability, Stoll Type 10
1683 PRT164 Partial Deletion of the Short Arm of Chromosome 8 10
1684 c CNG251 Congenital Pericardium Anomaly 10
1685 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 9
1686 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 9
1687 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 9
1688 4P1001 4p16.3 Microduplication Syndrome 9
1689 DST081 Distal Trisomy 11q 9
1690 HYP584 Hypotrichosis-Intellectual Disability, Lopes Type 9
1691 c TRN078 Transient Antenatal Bartter Syndrome 9
1692 PRT160 Partial Deletion of the Short Arm of Chromosome 4 9
1693 PRT187 Partial Duplication of Chromosome X 9
1694 c WDR002 Wdr26-Related Intellectual Disability 9
1695 PRT106 Partial Duplication of the Short Arm of Chromosome X 9
1696 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 9
1697 BLR023 Biliary Atresia with Splenic Malformation Syndrome 9
1698 c CNG406 Congenital Pulmonary Airway Malformation Type 0 9
1699 RNL106 Renal Dysplasia, Unilateral 9
1700 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
1701 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
1702 c UNP009 Uniparental Disomy of Chromosome 20 9
1703 DST076 Distal Trisomy 13q 9
1704 PRC042 Parachute Tricuspid Valve 9
1705 INV017 Inverse Marcus-Gunn Phenomenon 9
1706 P PRT183 Partial Monosomy of the Long Arm of Chromosome 10 9
1707 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 9
1708 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 9
1709 CNG272 Congenital Achiasma 9
1710 ANG057 Angioosteohypotrophic Syndrome 9
1711 c SCN085 Secondary Ectropion 9
1712 CNG283 Congenital Pseudoarthrosis of the Femur 9
1713 OMP003 Omphalomesenteric Cyst 8
1714 PRT228 Partial Duplication of Chromosome 1 8
1715 HMR042 Humero-Ulnar Synostosis 8
1716 c ISC013 Isochromosomy Yq 8
1717 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 8
1718 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 8
1719 PRT197 Partial Duplication of the Long Arm of Chromosome 15 8
1720 PRT203 Partial Duplication of the Long Arm of Chromosome 7 8
1721 DST057 Distal Trisomy 19q 8
1722 CNG327 Congenital Epstein-Barr Virus Infection 8
1723 c MTR065 Maternal Uniparental Disomy of Chromosome 21 8
1724 c GLC032 Glaucoma, Hereditary 8
1725 PRT231 Partial Duplication of Chromosome 4 8
1726 MDL028 Midline Cerebral Malformation 8
1727 RNL108 Renal Hypoplasia, Unilateral 8
1728 c RRR004 Rare Arteriovenous Malformation 8
1729 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
1730 PRT181 Partial Deletion of the Long Arm of Chromosome 8 8
1731 TRS020 Tarsal Kink Syndrome 8
1732 PRT171 Partial Deletion of the Short Arm of Chromosome 18 8
1733 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 8
1734 MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 8
1735 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 8
1736 RRV006 Rare Venous Malformation 8
1737 ESP045 Esophageal Malformation 8
1738 PRT152 Partial Deletion of Chromosome 10 8
1739 PRT177 Partial Deletion of the Long Arm of Chromosome 4 8
1740 PRT238 Partial Deletion of the Long Arm of Chromosome 17 8
1741 PRT241 Partial Deletion of the Long Arm of Chromosome 20 8
1742 CNG318 Congenital Genu Recurvatum 8
1743 CRN208 Coronary Sinus Atresia 8
1744 CNG517 Congenital Agenesis of the Scrotum 7
1745 P PRT173 Partial Monosomy of the Short Arm of Chromosome 20 7
1746 P PRT196 Partial Trisomy of the Long Arm of Chromosome 16 7
1747 PRT234 Partial Duplication of Chromosome 7 7
1748 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 7
1749 DST084 Distal Trisomy 8q 7
1750 PLY086 Polyrrhinia 7
1751 PRT235 Partial Deletion of the Long Arm of Chromosome 14 7
1752 URG006 Urogenital Tract Malformation 7
1753 PRT146 Partial Deletion of Chromosome 8 7
1754 PRT149 Partial Deletion of Chromosome 7 7
1755 PRT217 Partial Duplication of the Short Arm of Chromosome 4 7
1756 PRM335 Primary Bone Dysplasia with Multiple Joint Dislocations 7
1757 P PRM337 Primary Osteolysis 7
1758 c PTR023 Paternal Uniparental Disomy of Chromosome 13 7
1759 c PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
1760 PRT244 Partial Deletion of the Short Arm of Chromosome 12 7
1761 FTL049 Fetal Carbamazepine Syndrome 7
1762 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 7
1763 P NNS070 Non-Syndromic Cerebral Malformation 6
1764 P TSS001 Tessier Number 5 Facial Cleft 6
1765 PRT143 Partial Deletion of Chromosome 5 6
1766 PRT189 Partial Duplication of the Long Arm of Chromosome 19 6
1767 PRN015 Perinatal Intestinal Perforation 6
1768 c ATS489 Autosomal Dominant Nonsyndromic Deafness 76 6
1769 OTM002 Otomandibular Dysplasia 6
1770 MLT170 Multiple Congenital Anomalies/dysmorphic Syndrome 6
1771 12Q001 12q15q21.1 Microdeletion Syndrome 6
1772 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 6
1773 DST074 Distal Trisomy 20q 6
1774 P RRC010 Rare Capillary Malformation 6
1775 IDP088 Idiopathic Isolated Micropenis 6
1776 CNG290 Congenital Absence of Both Lower Leg and Foot 6
1777 ECT057 Ectasia of the Right Atrial Appendage 6
1778 c NNS047 Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration 6
1779 HYP850 Hypoglossia/aglossia 6
1780 ATY043 Atypical Norrie Disease Due to Xp11.3 Microdeletion 6
1781 PRT191 Partial Duplication of the Long Arm of Chromosome 17 6
1782 RNN007 Reunion Island Larsen-Like Syndrome 6
1783 TBL020 Tubular Duplication of the Esophagus 6
1784 CMP105 Complete Atrioventricular Septal Defect Without Ventricular Hypoplasia 6
1785 NSN002 Nose and Cavum Anomaly 6
1786 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 5
1787 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
1788 LWR011 Lower Lip Fistula 5
1789 PRT147 Partial Deletion of Chromosome 9 5
1790 PRT201 Partial Duplication of the Long Arm of Chromosome 3 5
1791 PRT209 Partial Duplication of the Short Arm of Chromosome 17 5
1792 PRT211 Partial Duplication of the Short Arm of Chromosome 11 5
1793 ISL153 Isolated Congenital Aglossia 5
1794 GST110 Gastroduodenal Malformation 5
1795 CNG345 Congenital Anomaly of Superior Vena Cava 5
1796 DST066 Distal Monosomy 20q 5
1797 DST077 Distal Trisomy 22q 5
1798 LCR016 Lacrimal Drainage System Anomaly 5
1799 c PRX100 Proximal Symphalangism 2 5
1800 LTH051 Lethal Brain and Heart Developmental Defects 5
1801 PRT212 Partial Duplication of the Short Arm of Chromosome 16 5
1802 PRM320 Primary Bone Dysplasia with Micromelia 5
1803 3Q2005 3q26q27 Microdeletion Syndrome 5
1804 PRT245 Partial Deletion of Chromosome 12 5
1805 RRC028 Rare Congenital Non-Syndromic Heart Malformation 5
1806 DRG019 Drug-Related Renal Tubular Dysgenesis 5
1807 PRM332 Primary Bone Dysplasia with Defective Bone Mineralization 5
1808 PRM333 Primary Bone Dysplasia with Decreased Bone Density 5
1809 PRM336 Primary Bone Dysplasia with Disorganized Development of Skeletal Components 5
1810 SLN010 Slender Bone Dysplasia 5
1811 c CNG620 Congenital-Onset Steinert Myotonic Dystrophy 5
1812 CNG601 Congenital Tricuspid Malformation 5
1813 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 5
1814 CNG438 Congenital Disorder of Glycosylation with Developmental Anomaly 5
1815 UTR055 Uterine Cervical Aplasia and Agenesis 5
1816 PRR038 Pierre Robin Syndrome Associated with Bone Disease 5
1817 c PRT194 Partial Trisomy of the Long Arm of Chromosome 9 5
1818 PRT227 Partial Deletion of the Long Arm of Chromosome 22 5
1819 CNG571 Congenital Disorder of Glycosylation-Related Bone Disorder 5
1820 ISL117 Isolated Congenital Radial Head Dislocation 5
1821 RSP024 Respiratory or Mediastinal Malformation 5
1822 DST070 Distal Monosomy 4q 5
1823 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
1824 SYN144 Syndromic Outer Canthal Malposition 5
1825 CRN313 Corneodysgenesis 5
1826 NLX006 Neu-Laxova Syndrome Due to 3-Phosphoglycerate Dehydrogenase Deficiency 5
1827 SYN169 Syndrome with a Central Nervous System Malformation As a Major Feature 5
1828 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1829 c LRP007 Lrp5-Related Primary Osteoporosis 5
1830 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
1831 c LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 5
1832 NNS046 Non-Syndromic Urogenital Tract Malformation 4
1833 LWS004 Low Isolated Anorectal Malformation 4
1834 MDN007 Median Cleft Lip/mandibule 4
1835 PRT142 Partial Deletion of Chromosome 4 4
1836 PRT157 Partial Deletion of Chromosome 19 4
1837 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 4
1838 CNG577 Congenital Deformities of Limbs 4
1839 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 4
1840 ARX004 Arx-Related Encephalopathy-Brain Malformation Spectrum 4
1841 RRC020 Rare Congenital Anomaly of Ventricular Septum 4
1842 NND007 Non-Distal Monosomy 12q 4
1843 NND009 Non-Distal Trisomy 9q 4
1844 SYN141 Syndromic Renal or Urinary Tract Malformation 4
1845 NNT057 Neonatal Osteosclerotic Dysplasia 4
1846 SBR010 Subaortic Course of Innominate Vein 4
1847 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 4
1848 CNG598 Congenital Malformation of the Eye with Glaucoma As a Major Feature 4
1849 RRT022 Rare Atrial Defect and Interatrial Communication 4
1850 SYN155 Syndromic Anorectal Malformation 4
1851 MLT174 Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome 4
1852 c RRD018 Rare Disease with Pierre Robin Syndrome 4
1853 c RRD045 Rare Disorder with Ectropion 4
1854 c BLT012 Bilateral Renal Agenesis Dominant Type 4
1855 CRD212 Cardiac Anomalies-Heterotaxy Syndrome 4
1856 PNN004 Pinnae Fistula or Cyst 4
1857 c PRT188 Partial Trisomy of the Long Arm of Chromosome 20 4
1858 PRT224 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 4
1859 ISL035 Isolated Amyelia 4
1860 SMP008 Simple Vascular Malformation 4
1861 SYN118 Syndrome with Limb Reduction Defects 4
1862 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
1863 HMR036 Humero-Ulnar Synostosis, Unilateral 4
1864 PRT247 Partial Duplication of the Short Arm of Chromosome 19 4
1865 ISL126 Isolated Iridoschisis 4
1866 SYN126 Syndromic Microspherophakia 4
1867 UNL009 Unilateral Congenital Megacalycosis 4
1868 DPH030 Diaphragmatic or Abdominal Wall Malformation 4
1869 ABN010 Abnormal Number of Coronary Ostia 4
1870 ISL071 Isolated Congenital Ectropion 4
1871 MCR377 Microblepharon-Ablephara Syndrome 4
1872 LNS009 Lens Size Anomaly 4
1873 ERL060 Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia 4
1874 c RRD046 Rare Disorder with Entropion 4
1875 HYP506 Hypoplasia of the Mitral Valve Annulus 4
1876 HGH040 High Isolated Anorectal Malformation 4
1877 MDN006 Median Cleft of the Upper Lip and Maxilla 4
1878 ISL107 Isolated Congenital Syngnathia 4
1879 PRT156 Partial Deletion of Chromosome 20 4
1880 MLF006 Malformation of the Neurenteric Canal, Spinal Cord and Column 4
1881 PRT243 Partial Duplication of the Short Arm of Chromosome 1 4
1882 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 4
1883 CNG576 Congenital Deformities of Fingers 4
1884 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 4
1885 CNG315 Congenital Vertical Talus, Unilateral 4
1886 MCR187 Macrodactyly of Fingers, Bilateral 4
1887 LTH049 Lethal Multiple Congenital Anomalies/dysmorphic Syndrome 4
1888 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
1889 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
1890 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
1891 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
1892 SYN156 Syndrome with Limb Malformations As a Major Feature 4
1893 NNS064 Non-Syndromic Central Nervous System Malformation 4
1894 SYN159 Syndromic Diaphragmatic or Abdominal Wall Malformation 4
1895 MLF004 Malformation Syndrome with Odontal and/or Periodontal Component 3
1896 MTR085 Maternal Disease-Related Embryofetopathy 3
1897 TRC124 True Congenital Shoulder Dislocation 3
1898 SYN130 Syndromic Lacrimal System Disorder 3
1899 RRT021 Rare Otorhinolaryngological Malformation 3
1900 CNG341 Congenital Anomaly of the Coronary Sinus 3
1901 STR075 Straddling or Overriding Tricuspid Valve 3
1902 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 3
1903 HRT042 Heart Position Anomaly 3
1904 c DNS012 Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum 3
1905 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1906 RRV004 Rare Vaginal Malformation 3
1907 NNS051 Non-Syndromic Urogenital Tract Malformation of Male 3
1908 PRR036 Pierre Robin Syndrome Associated with Collagen Disease 3
1909 PRR037 Pierre Robin Syndrome Associated with a Chromosomal Anomaly 3
1910 PRR039 Pierre Robin Syndrome Associated with Branchial Archs Anomalies 3
1911 RRS007 Rare Syndrome with Cardiac Malformations 3
1912 PRT214 Partial Trisomy/tetrasomy of Chromosome 18 3
1913 PRT221 Partial Trisomy/tetrasomy of Chromosome 9 3
1914 PRT232 Partial Trisomy/tetrasomy of Chromosome 5 3
1915 LPM014 Lipoma Associated with Neurospinal Dysraphism 3
1916 OTH026 Other Syndrome with a Central Nervous System Malformation As a Major Feature 3
1917 CNT113 Central Nervous System Cystic Malformation 3
1918 INF180 Infantile Hemangioma of Rare Localization 3
1919 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
1920 RRC017 Rare Capillary Malformation with Associated Anomalies 3
1921 OVR126 Overgrowth or Tall Stature Syndrome with Skeletal Involvement 3
1922 GNT161 Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy 3
1923 ISL152 Isolated Congenital Hypoglossia 3
1924 DPH029 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome 3
1925 ATS455 Autosomal Uniparental Disomy 3
1926 SXC006 Sex-Chromosome Structural Anomaly 3
1927 c CHR691 Chromosome X Structural Anomaly 3
1928 CRN315 Cranial Nerve and Nuclear Aplasia 3
1929 NNS062 Non-Syndromic Limb Malformation 3
1930 SYN161 Syndromic Visceral Malformation 3
1931 RRH012 Rare Head and Neck Malformation 3
1932 TXC022 Toxic or Drug-Related Embryofetopathy 3
1933 RRD038 Rare Disorder with Hirschsprung Disease As a Major Feature 3
1934 PTL012 Patellar Dysostosis 3
1935 NNS068 Non-Syndromic Intestinal Malformation 3
1936 NNS050 Non-Syndromic Urogenital Tract Malformation of Female 2
1937 ORM003 Oromandibular-Limb Anomalies Syndrome 2
1938 PLY186 Polysomy of X Chromosome 2
1939 PRT248 Partial Autosomal Trisomy/tetrasomy 2
1940 P TST021 Testicular Germ Cell Tumor 61
1941 c TST046 Testicular Germ Cell Tumor 1 26
1942 UND001 Undifferentiated Embryonal Sarcoma of the Liver 31
1943 P MDL005 Medulloblastoma 75
1944 P PTN014 Patent Ductus Arteriosus 1 59
1945 c NML003 Nemaline Myopathy 2 51
1946 c NML002 Nemaline Myopathy 1 49
1947 P NML001 Nemaline Myopathy 48
1948 GRC001 Gracile Syndrome 47
1949 c NML004 Nemaline Myopathy 3 47
1950 c ADL023 Adult Medulloblastoma 42
1951 SPR008 Supratentorial Primitive Neuroectodermal Tumor 42
1952 c NML006 Nemaline Myopathy 5 41
1953 c NML010 Nemaline Myopathy 7 39
1954 c NML005 Nemaline Myopathy 4 38
1955 c SVR040 Severe Congenital Nemaline Myopathy 37
1956 c INT274 Intermediate Congenital Nemaline Myopathy 36
1957 c NML025 Nemaline Myopathy 8 36
1958 c NML021 Nemaline Myopathy 9 33
1959 c NML024 Nemaline Myopathy 11, Autosomal Recessive 33
1960 c NML007 Nemaline Myopathy 6 30
1961 c ADL068 Adult-Onset Nemaline Myopathy 23
1962 c CNG579 Congenital Nemaline Myopathy 18
1963 CHL048 Childhood Teratocarcinoma of the Testis 7
1964 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1965 P NJM001 Nijmegen Breakage Syndrome 76
1966 BRT054 Brittle Bone Disorder 74
1967 PTZ001 Peutz-Jeghers Syndrome 70
1968 c MCP001 Mucopolysaccharidosis Iii 69
1969 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 69
1970 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68
1971 P CNG001 Congenital Myasthenic Syndrome 68
1972 P CRN037 Craniosynostosis 68
1973 ART002 Arts Syndrome 66
1974 HLT001 Holt-Oram Syndrome 66
1975 P NRB001 Neuroblastoma 66
1976 CNC002 Cinca Syndrome 66
1977 P MLG056 Malignant Hyperthermia 66
1978 P CMP005 Campomelic Dysplasia 65
1979 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65
1980 P ZLL001 Zellweger Syndrome 65
1981 BLM001 Bloom Syndrome 65
1982 P LYS001 Loeys-Dietz Syndrome 65
1983 P HRP006 Herpes Simplex 65
1984 NNN026 Noonan Syndrome with Multiple Lentigines 65
1985 FCL009 Focal Dermal Hypoplasia 64
1986 GRG001 Greig Cephalopolysyndactyly Syndrome 64
1987 CRN036 Craniopharyngioma 64
1988 P PRT008 Proteus Syndrome 63
1989 AND002 Androgen Insensitivity Syndrome 63
1990 P ECT006 Ectodermal Dysplasia 63
1991 ELL001 Ellis-Van Creveld Syndrome 62
1992 P BCK002 Beckwith-Wiedemann Syndrome 62
1993 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
1994 NRR002 Norrie Disease 61
1995 CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 61
1996 ART141 Arteriovenous Malformations of the Brain 60
1997 c WLF013 Wolfram Syndrome 1 60
1998 c CCK008 Cockayne Syndrome a 59
1999 KLP010 Klippel-Trenaunay-Weber Syndrome 59
2000 c NRB010 Neuroblastoma 1 59
2001 FCL081 Focal Cortical Dysplasia, Type Ii 59
2002 c CRP023 Carpenter Syndrome 1 59
2003 HYP042 Hypochondroplasia 59
2004 PSD012 Pseudoachondroplasia 59
2005 P SCL048 Sclerosteosis 58
2006 P SCK004 Seckel Syndrome 58
2007 P DXT004 Dextro-Looped Transposition of the Great Arteries 58
2008 PPL048 Papillorenal Syndrome 58
2009 c ART061 Arthrogryposis, Distal, Type 2a 58
2010 TTL012 Total Anomalous Pulmonary Venous Return 1 58
2011 MCS006 Macs Syndrome 58
2012 P EHL001 Ehlers-Danlos Syndrome 58
2013 P ADM011 Adams-Oliver Syndrome 58
2014 c MYT020 Myotonic Dystrophy 2 57
2015 c GLC097 Glaucoma 3, Primary Congenital, a 57
2016 VCS001 Vici Syndrome 57
2017 SPR004 Supravalvular Aortic Stenosis 57
2018 P CLS054 Classic Ehlers-Danlos Syndrome 57
2019 LCR014 Lacrimoauriculodentodigital Syndrome 57
2020 WLF002 Wolf-Hirschhorn Syndrome 57
2021 CLF004 Cleft Lip/palate 57
2022 MNK003 Muenke Syndrome 57
2023 c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 57
2024 c RBN021 Rubinstein-Taybi Syndrome 1 57
2025 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 57
2026 NWB001 Newborn Respiratory Distress Syndrome 56
2027 P ICH004 Ichthyosis 56
2028 P FNC044 Fanconi Anemia, Complementation Group C 56
2029 c FNC029 Fanconi Anemia, Complementation Group I 56
2030 c OTP007 Otopalatodigital Syndrome, Type Ii 56
2031 c LSS006 Lissencephaly 2 55
2032 P TWN003 Townes-Brocks Syndrome 55
2033 c RBN022 Robinow Syndrome, Autosomal Recessive 1 55
2034 HMF006 Hemifacial Microsomia 55
2035 P FTL001 Fetal Alcohol Syndrome 55
2036 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 55
2037 P MRG008 Meier-Gorlin Syndrome 1 55
2038 DNN002 Donnai-Barrow Syndrome 55
2039 MTP025 Metaphyseal Chondrodysplasia, Schmid Type 55
2040 MGC002 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 55
2041 IFP002 Ifap Syndrome 1, with or Without Bresheck Syndrome 55
2042 c FML347 Familial Adenomatous Polyposis 2 55
2043 ARS001 Aarskog-Scott Syndrome 54
2044 c SPN101 Spinocerebellar Ataxia 29 54
2045 c ACH041 Achondrogenesis, Type Ii 54
2046 PSD014 Pseudopseudohypoparathyroidism 54
2047 MBS002 Moebius Syndrome 54
2048 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 54
2049 MCN007 Meconium Aspiration Syndrome 53
2050 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53
2051 P ACH011 Achondrogenesis 53
2052 P MTR003 Mitral Valve Stenosis 53
2053 P JNC001 Junctional Epidermolysis Bullosa 53
2054 MLT135 Multiple Sulfatase Deficiency 53
2055 SCH071 Schaaf-Yang Syndrome 53
2056 BRN003 Branchiooculofacial Syndrome 53
2057 c MYS051 Myasthenic Syndrome, Congenital, 5 53
2058 CTS003 Coats Disease 53
2059 STV003 Stuve-Wiedemann Syndrome 52
2060 P LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 52
2061 LYM029 Lymphedema-Distichiasis Syndrome 52
2062 c LKD019 Leukodystrophy, Hypomyelinating, 6 52
2063 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 52
2064 P PTS002 Ptosis 52
2065 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52
2066 OST032 Osteofibrous Dysplasia 52
2067 c USH035 Usher Syndrome Type 2 52
2068 P SLV027 Silver-Russell Syndrome 1 52
2069 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 51
2070 c ART119 Arthrogryposis, Distal, Type 5 51
2071 MLC004 Mulchandani-Bhoj-Conlin Syndrome 51
2072 P PRT042 Parietal Foramina 51
2073 P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 51
2074 CNN011 Cenani-Lenz Syndactyly Syndrome 51
2075 P OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 51
2076 P HYP040 Hypospadias 51
2077 INT276 Interatrial Communication 51
2078 KPS002 Kaposiform Hemangioendothelioma 50
2079 ASP004 Asphyxia Neonatorum 50
2080 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 50
2081 MRS004 Marshall-Smith Syndrome 50
2082 c ACH042 Achondrogenesis, Type Ib 50
2083 PLM041 Pulmonary Valve Stenosis 50
2084 c RBN018 Robinow Syndrome, Autosomal Dominant 1 50
2085 CLL036 Culler-Jones Syndrome 49
2086 CRD002 Cri-Du-Chat Syndrome 49
2087 ACR058 Acrofacial Dysostosis 1, Nager Type 49
2088 c LYS017 Loeys-Dietz Syndrome 4 49
2089 BRT001 Bart-Pumphrey Syndrome 49
2090 JCK001 Jackson-Weiss Syndrome 49
2091 c OPT050 Opitz Gbbb Syndrome, Type Ii 49
2092 HMM003 Hemimegalencephaly 48
2093 c LKD010 Leukodystrophy, Hypomyelinating, 2 48
2094 DBW001 Dubowitz Syndrome 48
2095 GLC106 Glucocorticoid Resistance, Generalized 48
2096 HLS003 Helsmoortel-Van Der Aa Syndrome 48
2097 ECT026 Ectopic Pregnancy 48
2098 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 48
2099 c TRN032 Transient Neonatal Diabetes Mellitus 47
2100 MYP151 Myopathy, Congenital, Bailey-Bloch 47
2101 P GND004 Gonadal Dysgenesis 47
2102 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 47
2103 c DVL029 Developmental and Epileptic Encephalopathy 2 47
2104 c TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 47
2105 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 46
2106 c MCR245 Microphthalmia, Syndromic 8 46
2107 HRT030 Hartsfield Syndrome 46
2108 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 46
2109 RPD005 Rapidly Involuting Congenital Hemangioma 46
2110 CRY032 Carey-Fineman-Ziter Syndrome 46
2111 P HYP776 Hyperparathyroidism, Neonatal Severe 46
2112 P CRC039 Coarctation of Aorta 46
2113 c PNT036 Pontocerebellar Hypoplasia, Type 6 46
2114 EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 46
2115 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 46
2116 TTT001 Tatton-Brown-Rahman Syndrome 46
2117 P OCY003 Oocyte Maturation Defect 1 46
2118 P KRN004 Kernicterus 46
2119 c FNC028 Fanconi Anemia, Complementation Group L 46
2120 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 46
2121 PRG071 Progressive Pseudorheumatoid Dysplasia 45
2122 BRN062 Burn-Mckeown Syndrome 45
2123 c FBR029 Fibrochondrogenesis 1 45
2124 P MGL013 Megalencephaly 45
2125 c DFN133 Deafness, Autosomal Recessive 9 45
2126 c SPN293 Spinocerebellar Ataxia 12 45
2127 JLL001 Jalili Syndrome 45
2128 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 45
2129 c ATS282 Autosomal Recessive Malignant Osteopetrosis 45
2130 c ART147 Arthrogryposis, Distal, Type 7 45
2131 c JBR035 Joubert Syndrome 24 45
2132 BNB002 Bainbridge-Ropers Syndrome 45
2133 MCR037 Macroglossia 44
2134 MRG013 Mirage Syndrome 44
2135 CHN057 Chondrodysplasia, Grebe Type 44
2136 MCR103 Microtia 44
2137 P MLT072 Multiple Synostoses Syndrome