Fetal Diseases Category (5192 diseases)


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

# Family MCID Name MIFTS
1 P EMB005 Embryonal Rhabdomyosarcoma 52
2 CHL153 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified 5
3 FTL028 Fetal Retinoid Syndrome 15
4 ACT091 Acitretin Embryopathy 7
5 c LYM145 Lymphatic Malformation 5 52
6 c LYM144 Lymphatic Malformation 1 47
7 P LYM127 Lymphatic Malformations 44
8 P PRG092 Pregnancy Loss, Recurrent 1 40
9 c LYM150 Lymphatic Malformation 7 40
10 c RRL003 Rare Lymphatic Malformation 32
11 c LYM147 Lymphatic Malformation 3 23
12 c LYM148 Lymphatic Malformation 4 21
13 c LYM146 Lymphatic Malformation 2 16
14 P PRM252 Preimplantation Embryonic Lethality 1 21
15 TWN001 Twin-to-Twin Transfusion Syndrome 46
16 NCH001 Nuchal Bleb, Familial 24
17 c FTL006 Fetal Alcohol Spectrum Disorder 45
18 c RHB023 Rhabdomyosarcoma, Embryonal, 1 44
19 CHL043 Childhood Embryonal Testis Carcinoma 9
20 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 8
21 FTL004 Fetal Erythroblastosis 37
22 OVR050 Ovarian Embryonal Carcinoma 37
23 CHL026 Childhood Ovarian Embryonal Carcinoma 8
24 c ADL007 Adult Central Nervous System Embryonal Carcinoma 8
25 FTL066 Fetal Akinesia Syndrome, X-Linked 12
26 FTL011 Fetal Aminopterin Syndrome 11
27 P PRS062 Persistent Hyperplastic Primary Vitreous 43
28 GRM001 Germ Cell and Embryonal Cancer 31
29 c RHB021 Rhabdomyosarcoma, Embryonal, 2 21
30 c PRM251 Preimplantation Embryonic Lethality 2 16
31 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 12
32 PDT006 Pediatric Cns Embryonal Cell Carcinoma 7
33 c CTR102 Cataract 2, Multiple Types 31
34 FTL016 Fetal Edema 24
35 ORB002 Orbit Embryonal Rhabdomyosarcoma 19
36 PRS010 Prostate Embryonal Rhabdomyosarcoma 18
37 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
38 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
39 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 5
40 c RBN018 Robinow Syndrome, Autosomal Dominant 1 42
41 GCH018 Gaucher Disease, Perinatal Lethal 39
42 c FTL070 Fetal Akinesia Deformation Sequence 2 33
43 c FTL071 Fetal Akinesia Deformation Sequence 3 23
44 c FTL072 Fetal Akinesia Deformation Sequence 4 20
45 MRS006 Morse-Rawnsley-Sargent Syndrome 4
46 EMB002 Embryoma 45
47 ALC001 Alcohol-Related Birth Defect 34
48 PRT001 Partial Fetal Alcohol Syndrome 26
49 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 16
50 FTL021 Fetal Macrosomia 43
51 c LTH008 Lethal Congenital Contracture Syndrome 2 42
52 P LTH003 Lethal Congenital Contracture Syndrome 38
53 c CTR132 Cataract 3, Multiple Types 38
54 c NML025 Nemaline Myopathy 8 25
55 c LTH047 Lethal Congenital Contracture Syndrome 3 25
56 c LTH027 Lethal Congenital Contracture Syndrome 5 25
57 PRV001 Parovarian Cyst 24
58 c LTH039 Lethal Congenital Contracture Syndrome 11 23
59 FTL005 Fetal Adenoma 21
60 c LTH029 Lethal Congenital Contracture Syndrome 9 21
61 c LTH026 Lethal Congenital Contracture Syndrome 4 20
62 c LTH031 Lethal Congenital Contracture Syndrome 6 20
63 MTR016 Maternal Hyperphenylalaninemia 20
64 CCN012 Cocaine Antenatal Exposure 15
65 FTL048 Fetal Lung Interstitial Tumor 15
66 NNT022 Neonatal Ovarian Cyst 14
67 RR2001 Ror2-Related Robinow Syndrome 11
68 FTL020 Fetal Left Ventricular Aneurysm 9
69 THY113 Thymic Aplasia with Fetal Death 7
70 MXD015 Mixed Type Rhabdomyosarcoma 5
71 RRG014 Rare Genetic Developmental Defect During Embryogenesis 5
72 SMT021 Somatomedin, Embryonic 4
73 FTL063 Fetal Nicotine Spectrum Disorder 3
74 EMB017 Embryonal Tumor of Neuroepithelial Tissue 3
75 NNR010 Non-Rare Developmental Anomalies During Embryogenesis 3
76 OBS251 Obsolete: Embryonary Disorganization Syndrome 2
77 OBS547 Obsolete: Idiopathic Hydrops Fetalis 2
78 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 1
79 FTL027 Fetal Phenothiazine Syndrome 1
80 KPS004 Kaposi Sarcoma 75
81 P OST001 Osteopetrosis 70
82 P HYD006 Hydrocephalus 68
83 P PSD087 Pseudoxanthoma Elasticum 67
84 P CTR002 Cataract 62
85 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
86 GRG001 Greig Cephalopolysyndactyly Syndrome 61
87 LCR014 Lacrimoauriculodentodigital Syndrome 61
88 TKY002 Takayasu Arteritis 61
89 RBR001 Roberts Syndrome 61
90 P CTS001 Cutis Laxa 60
91 P EHL001 Ehlers-Danlos Syndrome 60
92 P SYP003 Syphilis 59
93 P PLY006 Polydactyly 58
94 NWB001 Newborn Respiratory Distress Syndrome 58
95 DNN002 Donnai-Barrow Syndrome 57
96 P SLV001 Silver-Russell Syndrome 55
97 c GLC097 Glaucoma 3, Primary Congenital, a 55
98 FRY006 Fryns Microphthalmia Syndrome 55
99 WVR001 Weaver Syndrome 54
100 P HYP050 Hyperinsulinemic Hypoglycemia 54
101 c BRC078 Brachydactyly, Type A1 54
102 P MTR003 Mitral Valve Stenosis 54
103 BRN003 Branchiooculofacial Syndrome 54
104 OLG003 Oligohydramnios 53
105 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 53
106 P VND007 Van Der Woude Syndrome 1 52
107 c BRC051 Brachydactyly, Type B1 51
108 OVR082 Overgrowth Syndrome 51
109 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 51
110 CHR005 Chorioamnionitis 51
111 P SYR001 Syringomyelia 51
112 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
113 P OMP004 Omphalocele 51
114 c PST041 Posterior Urethral Valves 50
115 P NNT009 Neonatal Diabetes Mellitus 50
116 c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 49
117 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 49
118 P FRN012 Frontometaphyseal Dysplasia 49
119 47X002 47,xyy 49
120 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
121 HYL004 Hyaline Fibromatosis Syndrome 49
122 TRC062 Tricuspid Atresia 49
123 JHN001 Johanson-Blizzard Syndrome 49
124 KBG001 Kbg Syndrome 49
125 PLY012 Polyhydramnios 48
126 NNT012 Neonatal Jaundice 48
127 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 48
128 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 48
129 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 48
130 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 48
131 PLM041 Pulmonary Valve Stenosis 48
132 PLC007 Placental Abruption 47
133 c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 47
134 HMH004 Hemihyperplasia, Isolated 47
135 P DNR001 Duane Retraction Syndrome 47
136 P SMP003 Simpson-Golabi-Behmel Syndrome 47
137 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 47
138 CHR222 Chromosome 1p36 Deletion Syndrome 46
139 P HRN001 Horner's Syndrome 46
140 P KLF001 Kleefstra Syndrome 46
141 P SXD002 Sex Development Disorder 45
142 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 45
143 P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 45
144 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 45
145 PTC002 Potocki-Lupski Syndrome 45
146 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 45
147 CYN002 Cyanosis, Transient Neonatal 45
148 THR009 Thrombocytopenia-Absent Radius Syndrome 44
149 SHR098 Short-Rib Thoracic Dysplasia 12 44
150 P OCY003 Oocyte Maturation Defect 1 44
151 PLC001 Placenta Accreta 44
152 TRN044 Transposition of the Great Arteries 44
153 RNS001 Raine Syndrome 43
154 DYS018 Dysostosis 43
155 c LSS006 Lissencephaly 2 43
156 LYM029 Lymphedema-Distichiasis Syndrome 43
157 DBT090 Diabetes and Deafness, Maternally Inherited 43
158 c RNG023 Ring Chromosome 7 43
159 P RNG032 Ring Chromosome 43
160 c WRD031 Waardenburg Syndrome, Type 3 43
161 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 43
162 CLF056 Cleft Lip with or Without Cleft Palate 42
163 c PRM032 Primary Congenital Glaucoma 42
164 c OST129 Osteopetrosis, Autosomal Recessive 2 42
165 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
166 GNT031 Genitopatellar Syndrome 41
167 HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 41
168 PLY100 Polyploidy 41
169 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 40
170 MLT162 Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 40
171 c DNR003 Duane Retraction Syndrome 1 40
172 c PTT029 Pitt-Hopkins-Like Syndrome 1 40
173 c TRN032 Transient Neonatal Diabetes Mellitus 40
174 PLL008 Pallister-Killian Syndrome 39
175 CLF053 Cleft Palate with or Without Ankyloglossia, X-Linked 39
176 c OST126 Osteopetrosis, Autosomal Recessive 1 39
177 c MCR263 Microphthalmia, Syndromic 1 39
178 SCR035 Sacral Agenesis with Vertebral Anomalies 39
179 MLL009 Mullerian Aplasia 39
180 HYP223 Hypoplastic Right Heart Syndrome 38
181 c CTR096 Cataract 6, Multiple Types 38
182 P PLY148 Polydactyly, Preaxial Ii 38
183 THR017 Thoracoabdominal Syndrome 38
184 c CTR130 Cataract 9, Multiple Types 38
185 c CNG033 Congenital Syphilis 38
186 c XFP001 Xfe Progeroid Syndrome 38
187 c KLF004 Kleefstra Syndrome 1 38
188 c CTR103 Cataract 4, Multiple Types 38
189 c SCN006 Secondary Syphilis 38
190 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
191 c SYN084 Synpolydactyly 1 38
192 KFM001 Kaufman Oculocerebrofacial Syndrome 38
193 SHR120 Short Rib-Polydactyly Syndrome, Majewski Type 37
194 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
195 48X005 48,xyyy 37
196 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
197 P LSS024 Lissencephaly with Cerebellar Hypoplasia 37
198 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 37
199 ALB014 Alobar Holoprosencephaly 37
200 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 37
201 TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 36
202 CHR518 Chromosome 9p Deletion Syndrome 36
203 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 36
204 PRT048 Partial Atrioventricular Canal 36
205 RVL002 Ruvalcaba Syndrome 36
206 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 36
207 KGM001 Kagami-Ogata Syndrome 36
208 CHR667 Chromosome 3pter-P25 Deletion Syndrome 36
209 c RBN020 Robinow Syndrome, Autosomal Dominant 3 36
210 P SYN059 Syndactyly, Type V 36
211 c RHZ015 Rhizomelic Chondrodysplasia Punctata, Type 5 35
212 PLC009 Placenta Praevia 35
213 c CTR141 Cataract 21, Multiple Types 35
214 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
215 PLT007 Palatopharyngeal Incompetence 35
216 c CTR118 Cataract 14, Multiple Types 35
217 c CTR170 Cataract 30, Multiple Types 35
218 FCL090 Facial Cleft 35
219 c CTR174 Cataract 40 35
220 c CTR122 Cataract 5, Multiple Types 35
221 c CTR115 Cataract 16, Multiple Types 35
222 BRC004 Brachydactyly-Syndactyly Syndrome 35
223 P PK3005 Pik3ca-Related Overgrowth Syndrome 35
224 c FRN049 Frontometaphyseal Dysplasia 1 34
225 CLF028 Cleft Soft Palate 34
226 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 34
227 c RNG020 Ring Chromosome 4 34
228 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 34
229 c CTR145 Cataract 44 34
230 PRT049 Partial Deletion of Y 34
231 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
232 PTC001 Potocki-Shaffer Syndrome 34
233 MCR096 Macrocephaly/autism Syndrome 34
234 CHR377 Chromosome 10q26 Deletion Syndrome 34
235 c RNG004 Ring Chromosome 1 34
236 P MXD016 Mixed Gonadal Dysgenesis 34
237 ELS006 Elsahy-Waters Syndrome 34
238 c MNS014 Monosomy 22 33
239 NNT004 Neonatal Respiratory Failure 33
240 MCR099 Microlissencephaly 33
241 c GLC083 Glaucoma 3, Primary Infantile, B 33
242 c STS007 Sotos Syndrome 2 32
243 CRB147 Cerebellofaciodental Syndrome 32
244 P 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 32
245 EMN001 Emanuel Syndrome 32
246 INF021 Infant Gynecomastia 32
247 JBR005 Joubert Syndrome with Ocular Anomalies 32
248 c VCT004 Vacterl Association with Hydrocephalus 32
249 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 32
250 c CTR129 Cataract 31, Multiple Types 31
251 MLR023 Melorheostosis, Isolated 31
252 TRG019 Trigonocephaly with Short Stature and Developmental Delay 31
253 P AML065 Amelia 31
254 c ANT083 Anterior Segment Dysgenesis 7 31
255 ISL096 Isolated Klippel-Feil Syndrome 31
256 P PRS124 Presynaptic Congenital Myasthenic Syndromes 31
257 PYR018 Pyruvate Dehydrogenase Phosphatase Deficiency 31
258 NNT005 Neonatal Candidiasis 31
259 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 30
260 c ART104 Arthrogryposis, Distal, Type 5d 30
261 PLM151 Pulmonary Arteriovenous Fistulas 30
262 c PNT039 Pontocerebellar Hypoplasia, Type 7 30
263 c PRM022 Primary Syphilis 30
264 MCR302 Macrostomia, Isolated 30
265 P SCL047 Sclerocornea 30
266 LMB010 Lambert Syndrome 30
267 ZTT001 Zttk Syndrome 29
268 ATR088 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 29
269 P CRN249 Cornea Plana 29
270 c RNG008 Ring Chromosome 13 29
271 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
272 ANR010 Aneurysm of Sinus of Valsalva 29
273 c CTR181 Cataract 18 29
274 P ACR106 Acrocephalopolysyndactyly Type Iii 29
275 c ERL012 Early-Onset Glaucoma 29
276 c CTR095 Cataract 8, Multiple Types 29
277 c FRN048 Frontometaphyseal Dysplasia 2 28
278 MSC021 Mosaic Trisomy 9 28
279 ATS391 Autosomal Recessive Cutis Laxa Type Ii Classic Type 28
280 c PTT030 Pitt-Hopkins-Like Syndrome 2 28
281 DST008 Diastematomyelia 28
282 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 28
283 c CTR175 Cataract 24 28
284 ATY016 Atypical Werner Syndrome 28
285 c CTR166 Cataract 33, Multiple Types 28
286 c CTS031 Cutis Laxa, Autosomal Dominant 2 28
287 c CTR113 Cataract 11, Multiple Types 28
288 c RNG016 Ring Chromosome 20 28
289 CMP035 Complete Atrioventricular Canal 28
290 SPN125 Spondyloenchondrodysplasia 28
291 49X001 49, Xxxxx 28
292 TBL008 Tibial Hemimelia 27
293 CHR270 Chromosome 9p Duplication 27
294 TTR014 Tetrasomy 18p 27
295 CRL006 Caroli Disease, Isolated 27
296 P PRG139 Progeroid Syndrome 27
297 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
298 c CTR158 Cataract 37 27
299 TTR012 Tetrasomy 9p 27
300 CRN264 Craniosynostosis with Fibular Aplasia 27
301 c OST120 Osteopetrosis, Autosomal Recessive 5 27
302 PSD046 Pseudotrisomy 13 Syndrome 27
303 c OST137 Osteopetrosis, Autosomal Recessive 4 27
304 c ERL002 Early Congenital Syphilis 27
305 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 27
306 c PTT042 Pitt-Hopkins-Like Syndrome 27
307 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
308 ATY022 Atypical Coarctation of Aorta 26
309 UTR054 Uterine Hypoplasia 26
310 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 26
311 c CTR180 Cataract 22, Multiple Types 26
312 FRN022 Frontofacionasal Dysplasia 26
313 CLF046 Cleft Lip/palate with Abnormal Thumbs and Microcephaly 26
314 CMP097 Complex Chromosomal Rearrangement 26
315 c PK3004 Pik3ca-Related Overgrowth Spectrum 26
316 c RNG017 Ring Chromosome 21 26
317 c ACQ027 Acquired Cutis Laxa 26
318 CHR588 Chromosome 8q22.1 Duplication Syndrome 26
319 CHR524 Chromosome 16p13.3 Duplication Syndrome 26
320 CHR268 Chromosome 8q Duplication 26
321 c FRN032 Frontonasal Dysplasia 3 26
322 c RNG007 Ring Chromosome 12 25
323 MSC016 Mosaic Trisomy 14 25
324 c DNR004 Duane Retraction Syndrome 2 25
325 c CLR135 Ciliary Dyskinesia, Primary, 7 25
326 c FRN037 Frontal Encephalocele 25
327 BRC091 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 25
328 P TRS029 Trisomy 1q 25
329 TRC110 Tracheobronchial Stenosis, Congenital 25
330 DPH012 Diphallia 25
331 RCM003 Recombinant Chromosome 8 Syndrome 25
332 OCL040 Oculomaxillofacial Dysostosis 25
333 P UNP013 Uniparental Disomy of Chromosome 1 25
334 c LTC001 Late Congenital Syphilis 25
335 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
336 P BLT016 Bilateral Polymicrogyria 25
337 BCR002 Bicornuate Uterus 25
338 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
339 c TYP003 Type I Ehlers-Danlos Syndrome 25
340 KPR003 Keipert Syndrome 25
341 PLY110 Polymicrogyria, Bilateral Temporooccipital 25
342 c RNG013 Ring Chromosome 18 25
343 c MGL028 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 25
344 EPP020 Epiphyseal Dysplasia, Microcephaly, and Nystagmus 24
345 c HYD040 Hydrolethalus Syndrome 2 24
346 PRT131 Partial Trisomy Distal 4q 24
347 c CTR131 Cataract 17, Multiple Types 24
348 P VCT008 Vacterl with Hydrocephalus 24
349 c VND004 Van Der Woude Syndrome 2 24
350 MCR067 Microcoria, Congenital 24
351 c CTR111 Cataract 36 24
352 ASS004 Aase-Smith Syndrome I 24
353 c CTR165 Cataract 19, Multiple Types 24
354 PNS015 Penoscrotal Transposition 24
355 CHR487 Chromosome 8q21.11 Deletion Syndrome 24
356 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 24
357 CHR502 Chromosome 17q12 Duplication Syndrome 24
358 P SPN236 Spina Bifida Cystica 24
359 c CRN280 Cornea Plana 2, Autosomal Recessive 24
360 c SYN140 Syndrome with 46,xy Disorder of Sex Development 23
361 c CTR136 Cataract 41 23
362 c CTR110 Cataract 26, Multiple Types 23
363 c OST106 Osteopetrosis, Autosomal Recessive 8 23
364 c SYN088 Synpolydactyly 2 23
365 c CTR183 Cataract 38 23
366 HML054 Hemolytic Disease Due to Fetomaternal Alloimmunization 23
367 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 23
368 TTR021 Tetrasomy 21 23
369 CHR393 Chromosome 19p13.13 Deletion Syndrome 23
370 48X002 48,xxxy Syndrome 23
371 c CTR125 Cataract 7 23
372 c MGL029 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 23
373 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 23
374 MMM002 Mammary-Digital-Nail Syndrome 23
375 DVL022 Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 23
376 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 23
377 FBL010 Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 23
378 c FCL056 Facial Paresis, Hereditary Congenital, 3 22
379 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
380 c CTR162 Cataract 47 22
381 c CRB209 Cerebellar Malformation 22
382 PLY116 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis 22
383 PRP101 Peripheral Pulmonary Stenosis 22
384 SPN141 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 22
385 c CTR169 Cataract 29 22
386 MCR310 Microgastria-Limb Reduction Defects Association 22
387 DFF022 Diffuse Neonatal Hemangiomatosis 22
388 HYP212 Hypomandibular Faciocranial Dysostosis 22
389 SYM024 Symphalangism, Distal 22
390 CHR457 Chromosome 17p13.1 Deletion Syndrome 22
391 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 22
392 c CTR184 Cataract 39, Multiple Types 22
393 ADD006 Adducted Thumbs Syndrome 22
394 c GLC054 Glaucoma 3, Primary Congenital, D 22
395 c APR009 Aprosencephaly Syndrome 22
396 c PLY137 Polydactyly, Preaxial Iii 22
397 LMB014 Limb-Body Wall Complex 22
398 PLY135 Polydactyly, Postaxial, with Progressive Myopia 22
399 CHR266 Chromosome 8p23.1 Deletion 22
400 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
401 CRB062 Cerebellar Hypoplasia with Endosteal Sclerosis 22
402 c CTR187 Cataract 48 22
403 CLB011 Coloboma of Macula with Type B Brachydactyly 22
404 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
405 c OMP009 Omphalocele, Autosomal 21
406 MSL005 Mseleni Joint Disease 21
407 c CTR163 Cataract 46, Juvenile-Onset 21
408 c KLF005 Kleefstra Syndrome 2 21
409 SCH025 Schisis Association 21
410 PHK008 Phakomatosis Cesioflammea 21
411 EXT062 Extracranial Carotid Artery Aneurysm 21
412 c BRC053 Brachyolmia Type 2 21
413 BRN123 Branchial Arch Syndrome, X-Linked 21
414 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 21
415 c LTH030 Lethal Congenital Contracture Syndrome 8 21
416 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 21
417 c OST171 Osteopetrosis, Autosomal Dominant 3 21
418 CHR616 Chromosome 19q13.11 Deletion Syndrome, Distal 21
419 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 21
420 c HRN024 Horner Syndrome, Congenital 21
421 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 21
422 c 46X011 46, Xy Disorders of Sexual Development 20
423 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 20
424 DPL007 Duplication of Urethra 20
425 QDR002 Quadricuspid Aortic Valve 20
426 c LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 20
427 CMP039 Camptodactyly 1 20
428 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 20
429 c CTR119 Cataract 32, Multiple Types 20
430 CRN311 Coronary Ostial Stenosis or Atresia 20
431 c CTR144 Cataract 43 20
432 8P2002 8p23.1 Duplication Syndrome 20
433 c ANT087 Anterior Segment Dysgenesis 6 20
434 c CTR159 Cataract 35 20
435 ULN005 Ulna and Fibula, Hypoplasia of 20
436 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 20
437 ISL084 Isolated Trigonocephaly 20
438 c CTR097 Cataract 34, Multiple Types 20
439 P CHR200 Chromosome 16 Trisomy 20
440 ATK002 Atkin-Flaitz Syndrome 20
441 c CTR185 Cataract 30 20
442 ACH039 Achalasia-Microcephaly Syndrome 20
443 c RNG012 Ring Chromosome 17 20
444 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 20
445 c CTR106 Cataract 20, Multiple Types 20
446 c CTR139 Cataract 42 20
447 PTL010 Patella Aplasia-Hypoplasia 19
448 CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 19
449 FMR013 Femoral Agenesis/hypoplasia 19
450 CHR368 Chromosome Xp11.23-P11.22 Duplication Syndrome 19
451 c SCN048 Secondary Syringomyelia 19
452 c OCY002 Oocyte Maturation Defect 2 19
453 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 19
454 c FCL030 Facial Paresis, Hereditary Congenital, 1 19
455 NSL020 Nasal Glial Heterotopia 19
456 c OCY005 Oocyte Maturation Defect 4 19
457 c CTR160 Cataract 45 19
458 CHR182 Chromosome 10p Duplication 19
459 FBR087 Fibromatosis, Gingival, with Distinctive Facies 19
460 MSC019 Mosaic Trisomy 7 19
461 P PTR018 Paternal Uniparental Disomy of Chromosome 6 19
462 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 19
463 c CTR121 Cataract 25 19
464 c UNP012 Uniparental Disomy of Chromosome 7 19
465 CNG009 Congenital Aortic Valve Stenosis 19
466 c ART158 Arthrogryposis Multiplex Congenita, Myogenic Type 19
467 XLN086 X-Linked Ehlers-Danlos Syndrome 19
468 c ACR108 Acrocephalopolysyndactyly Type Iv 19
469 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 19
470 CRV063 Cervical Spina Bifida Aperta 19
471 c GLC089 Glaucoma 3, Primary Congenital, E 18
472 MYL044 Myelocystocele 18
473 XQ2003 Xq25 Duplication Syndrome 18
474 SCL051 Scalp Defects and Postaxial Polydactyly 18
475 6QT002 6q Terminal Deletion Syndrome 18
476 SMM003 Summitt Syndrome 18
477 DST044 Distal Trisomy 14q 18
478 P HRD043 Hereditary Congenital Facial Paresis 18
479 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 18
480 BRC098 Brachydactyly-Nystagmus-Cerebellar Ataxia 18
481 CHR416 Chromosome 17q Deletion 18
482 2Q3005 2q31.1 Microdeletion Syndrome 18
483 JNT004 Joint Laxity, Short Stature, and Myopia 18
484 c HYD042 Hydrocephalus, Autosomal Dominant 18
485 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 18
486 VRR008 Verrucous Hemangioma 18
487 c CTR178 Cataract 27 18
488 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 18
489 c CTR157 Cataract 28 18
490 c CRN279 Cornea Plana 1, Autosomal Dominant 18
491 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 18
492 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 18
493 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 18
494 c SYN040 Synpolydactyly 3 17
495 CNG491 Congenital Portosystemic Shunt 17
496 PLM067 Pulmonary Valves Agenesis 17
497 DYS134 Dysspondyloenchondromatosis 17
498 BLP042 Blepharoptosis, Myopia, and Ectopia Lentis 17
499 WLS002 Wilson-Mikity Syndrome 17
500 SXC007 Sex-Chromosome Anomaly 17
501 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
502 CRV061 Cervicothoracic Spina Bifida Cystica 17
503 THR084 Thoracolumbosacral Spina Bifida Cystica 17
504 c TTL008 Total Spina Bifida Cystica 17
505 c OCY006 Oocyte Maturation Defect 5 17
506 c OCY007 Oocyte Maturation Defect 6 17
507 RTF001 Retiform Hemangioendothelioma 17
508 P XKP001 Xk Aprosencephaly 17
509 EDN001 Edinburgh Malformation Syndrome 17
510 CXR001 Coxoauricular Syndrome 17
511 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 17
512 MLT148 Multiple Pterygium Syndrome, X-Linked 17
513 CRN192 Craniorhiny 17
514 c CTR128 Cataract 33 17
515 MCD004 Macdermot-Winter Syndrome 17
516 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 17
517 SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 17
518 c UNP011 Uniparental Disomy of Chromosome 14 17
519 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 17
520 ESS005 Essential Iris Atrophy 16
521 PLY133 Polysyndactyly with Cardiac Malformation 16
522 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 16
523 PTN011 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 16
524 TRN017 Transient Neonatal Neutropenia 16
525 1Q4001 1q44 Microdeletion Syndrome 16
526 DST045 Distal Trisomy 6p 16
527 16P004 16p13.11 Microduplication Syndrome 16
528 c CNG596 Congenital Ectropion 16
529 c BRC035 Brachydactyly Type A5 16
530 FCL064 Facial Dysmorphism with Multiple Malformations 16
531 WHT005 White Forelock with Malformations 16
532 CRN308 Coronary Arterial Fistula 16
533 c CNT108 Central Polydactyly 16
534 CLB008 Coloboma of Eye Lens 16
535 c CHR180 Chromosome 10, Uniparental Disomy 16
536 CTN032 Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia 16
537 ISL134 Isolated Craniosynostosis 16
538 19P001 19p13.12 Microdeletion Syndrome 16
539 RDL029 Radial Ray Hypoplasia with Choanal Atresia 16
540 c GLC052 Glaucoma 3, Primary Congenital, C 16
541 c OCY004 Oocyte Maturation Defect 3 16
542 CLF047 Cleft-Limb-Heart Malformation Syndrome 16
543 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 16
544 MDL016 Midline Cervical Cleft 16
545 7P2001 7p22.1 Microduplication Syndrome 16
546 c PST093 Posterior Hypospadias 16
547 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 16
548 PLY088 Polyvalvular Heart Disease Syndrome 16
549 c AML053 Amelia, Autosomal Recessive 15
550 c HYD067 Hydatidiform Mole, Recurrent, 3 15
551 THY105 Thyrocerebroretinal Syndrome 15
552 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 15
553 SPN120 Spondylocamptodactyly 15
554 DLT013 Deletion 5q35 15
555 CMP016 Camptobrachydactyly 15
556 c UNP008 Uniparental Disomy of Chromosome 15 15
557 SBM006 Submucosal Cleft Palate 15
558 PFF010 Pfeiffer-Palm-Teller Syndrome 15
559 CNG330 Congenital Megacalycosis 15
560 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 15
561 DST082 Distal Trisomy 10q 15
562 HYP689 Hypomelia with Mullerian Duct Anomalies 15
563 P ZYG003 Zygodactyly 1 15
564 c SPN122 Spondylocostal Dysostosis 2 15
565 CRD014 Cardiac Diverticulum 15
566 ACR078 Acral Self-Healing Collodion Baby 15
567 TRN046 Transverse Vaginal Septum 15
568 CYS047 Cystic Fibrosis, Modifier of, 1 15
569 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
570 PHK006 Phakomatosis Pigmentokeratotica 15
571 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 15
572 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 15
573 CRY029 Cryptomicrotia-Brachydactyly Syndrome 15
574 INF059 Infundibulopelvic Dysgenesis 15
575 PSD091 Pseudounicornuate Uterus 15
576 c FCL050 Facial Paresis, Hereditary Congenital, 2 15
577 ATR018 Atrial Septal Defect Ostium Primum 14
578 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
579 PRN057 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 14
580 HMN034 Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe 14
581 MSC080 Mosaic Trisomy 12 14
582 ANR045 Aneurysm of Interventricular Septum 14
583 WHB001 Wahab Syndrome 14
584 c MTR062 Maternal Uniparental Disomy of Chromosome 4 14
585 LNG081 Longitudinal Vaginal Septum 14
586 THM021 Thumb Deformity and Alopecia 14
587 P ISL029 Isolated Anorectal Malformation 14
588 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 14
589 c MTR063 Maternal Uniparental Disomy of Chromosome 2 14
590 HYP727 Hypoglossia with Situs Inversus 14
591 14Q001 14q12 Microdeletion Syndrome 14
592 c UNP007 Uniparental Disomy of Chromosome 6 14
593 MSC078 Mosaic Trisomy 17 14
594 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 14
595 URC012 Urachal Sinus 14
596 DST035 Distal Trisomy 18q 14
597 URC013 Urachal Diverticulum 13
598 IDP017 Idiopathic Dilatation of the Pulmonary Artery 13
599 PRT184 Partial Deletion of the Long Arm of Chromosome 11 13
600 TBB005 Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 13
601 P ANT062 Anterior Urethral Valve 13
602 3P2001 3p25.3 Microdeletion Syndrome 13
603 NND006 Non-Distal Monosomy 20q 13
604 BLT009 Bilateral Generalized Polymicrogyria 13
605 c UNP003 Uniparental Disomy of Chromosome 11 13
606 HLL014 Hallux Varus and Preaxial Polysyndactyly 13
607 ART097 Aorto-Left Ventricular Tunnel 13
608 PST104 Postaxial Oligodactyly, Tetramelic 13
609 ULN014 Ulnar Hemimelia 13
610 ISL128 Isolated Microspherophakia 13
611 1P2001 1p21.3 Microdeletion Syndrome 13
612 c SCL053 Sclerocornea, Autosomal Dominant 12
613 CRN204 Craniofacial Conodysplasia 12
614 NSL021 Nasal Encephalocele 12
615 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 12
616 CNS012 Cono-Spondylar Dysplasia 12
617 PRT213 Partial Duplication of Chromosome 19 12
618 ACH028 Acheiria 12
619 ANN015 Anonychia with Flexural Pigmentation 12
620 MND008 Mandibular Arteriovenous Malformation 12
621 c PRM168 Primary Syringomyelia 12
622 ACR121 Acromelic Dysplasia 12
623 6P2001 6p22 Microdeletion Syndrome 12
624 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 12
625 c CNG433 Congenital Cornea Plana 12
626 ANN018 Anonychia, Total, with Microcephaly 12
627 CNG423 Congenital Valvular Dysplasia 12
628 CMP070 Complete Atrioventricular Canal-Left Heart Obstruction Syndrome 12
629 HYP852 Hypocalcemic Rickets 12
630 PRP103 Peripapillary Staphyloma 12
631 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 12
632 c MTR060 Maternal Uniparental Disomy of Chromosome 9 12
633 c SPN123 Spondylocostal Dysostosis 3 12
634 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
635 c ATS448 Autosomal Recessive Brachyolmia 11
636 PRT161 Partial Deletion of the Short Arm of Chromosome 3 11
637 MGC005 Megacystis-Megaureter Syndrome 11
638 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 11
639 CNG282 Congenital Knee Dislocation 11
640 TRC112 Trochlea of the Humerus, Aplasia of 11
641 ANM075 Anomalous Aortic Origin of Coronary Artery 11
642 TNN014 Tunnel Subaortic Stenosis 11
643 ANM076 Anomalous Aortic Origin of the Right Coronary Artery 11
644 16P005 16p11.2p12.2 Microduplication Syndrome 11
645 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 11
646 XLN133 X-Linked Intellectual Disability, Shashi Type 11
647 MSC090 Mosaic Trisomy 3 11
648 5Q3001 5q35 Microduplication Syndrome 11
649 c UNP004 Uniparental Disomy of Chromosome 2 11
650 CLF019 Cleft Palate Short Stature Vertebral Anomalies 11
651 GZR001 Guizar Vasquez Sanchez Manzano Syndrome 11
652 ONY006 Onychodystrophy-Anonychia 11
653 SPN435 Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 11
654 P CNG326 Congenital Primary Megaureter 11
655 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 11
656 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 11
657 GNN001 Genuine Diffuse Phlebectasia 11
658 c CTR025 Cataract, Total Congenital 11
659 HRR003 Herrmann Opitz Craniosynostosis 11
660 PRT206 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 11
661 SX2003 Six2-Related Frontonasal Dysplasia 11
662 PRT185 Partial Deletion of the Long Arm of Chromosome 13 11
663 PRT163 Partial Deletion of the Short Arm of Chromosome 5 11
664 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 11
665 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 11
666 20Q001 20q13.33 Microdeletion Syndrome 11
667 MDR001 Medeira-Dennis-Donnai Syndrome 11
668 MSC087 Mosaic Trisomy 4 11
669 CNG279 Congenital Pseudoarthrosis of the Ulna 10
670 9Q2003 9q21.13 Microdeletion Syndrome 10
671 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 10
672 CNG575 Congenital Joint Dislocations 10
673 CNG244 Congenital Laryngeal Cyst 10
674 c GLC032 Glaucoma, Hereditary 10
675 PRT169 Partial Deletion of the Short Arm of Chromosome 11 10
676 ART130 Arthrogryposis with Hyperkeratosis 10
677 c ZYG005 Zygodactyly Type 4 10
678 c SPN121 Spondylocostal Dysostosis 1 10
679 LWR014 Lower Limb Hypertrophy 10
680 APD003 Apodia 10
681 DYS208 Dysostosis with Brachydactyly 10
682 PRM302 Paramedian Facial Cleft 10
683 c MTR057 Maternal Uniparental Disomy of Chromosome X 10
684 c CHR232 Chromosome 21, Uniparental Disomy 10
685 LWR017 Lower Limb Malformation-Hypospadias Syndrome 10
686 PRT200 Partial Duplication of the Long Arm of Chromosome 2 10
687 CRD171 Cordiform Uterus 10
688 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 10
689 PRT164 Partial Deletion of the Short Arm of Chromosome 8 10
690 XSM001 X Small Rings 10
691 PRT167 Partial Deletion of the Short Arm of Chromosome 9 10
692 XQ1001 Xq12-Q13.3 Duplication Syndrome 10
693 XLN149 X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis 10
694 PRT153 Partial Deletion of Chromosome 11 10
695 ART098 Aorto-Right Ventricular Tunnel 10
696 c CHR201 Chromosome 16, Uniparental Disomy 10
697 CNG272 Congenital Achiasma 10
698 c ZYG006 Zygodactyly Type 2 9
699 PRT187 Partial Duplication of Chromosome X 9
700 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 9
701 DGS007 Digestive Duplication 9
702 DST081 Distal Trisomy 11q 9
703 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 9
704 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
705 HLP030 Holoprosencephaly-Caudal Dysgenesis Syndrome 9
706 ERL041 Early-Onset Zonular Cataract 9
707 c ATS065 Autosomal Dominant Coarctation of Aorta 9
708 PRT145 Partial Deletion of Chromosome 3 9
709 c SPN124 Spondylocostal Dysostosis 4 9
710 c UNP010 Uniparental Disomy of Chromosome 13 9
711 BLK004 Blake Pouch Cyst 9
712 CNG327 Congenital Epstein-Barr Virus Infection 9
713 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 9
714 XLN142 X-Linked Intellectual Disability, Stevenson Type 9
715 PRT154 Partial Deletion of Chromosome 18 9
716 PRT236 Partial Deletion of the Long Arm of Chromosome 15 9
717 PRT179 Partial Deletion of the Long Arm of Chromosome 6 9
718 MLH001 Melhem Fahl Syndrome 9
719 PRT228 Partial Duplication of Chromosome 1 9
720 c ACQ029 Acquired Porencephaly 9
721 PRT231 Partial Duplication of Chromosome 4 9
722 c PRT205 Partial Trisomy of the Long Arm of Chromosome 5 9
723 AML037 Amelia of Upper Limb 9
724 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 8
725 c UNP009 Uniparental Disomy of Chromosome 20 8
726 DGS009 Digestive Tract Malformation 8
727 PRT166 Partial Deletion of the Short Arm of Chromosome 10 8
728 SYN027 Syngnathia Cleft Palate 8
729 PRT208 Partial Duplication of the Short Arm of Chromosome 8 8
730 PRT239 Partial Deletion of the Long Arm of Chromosome 18 8
731 BPR001 Bipartite Talus 8
732 HMR031 Humeral Agenesis/hypoplasia 8
733 CCH007 Cochleovestibular Dysplasia 8
734 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 8
735 c PTR015 Paternal Uniparental Disomy of Chromosome X 8
736 MTR084 Maternal Hyperthermia-Induced Birth Defects 8
737 PRT225 Partial Duplication of Chromosome 17 8
738 c KRN003 Kernicterus Due to Isoimmunization 8
739 MCR294 Macrocephaly-Short Stature-Paraplegia Syndrome 8
740 c PRT182 Partial Monosomy of the Long Arm of Chromosome 9 8
741 PRT238 Partial Deletion of the Long Arm of Chromosome 17 8
742 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 8
743 SVR046 Severe Lateral Tibial Bowing with Short Stature 8
744 CNG318 Congenital Genu Recurvatum 8
745 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 8
746 OMP003 Omphalomesenteric Cyst 8
747 c OCY008 Oocyte Maturation Defect 7 8
748 PRT226 Partial Duplication of Chromosome 16 8
749 MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 7
750 PRT197 Partial Duplication of the Long Arm of Chromosome 15 7
751 PRT203 Partial Duplication of the Long Arm of Chromosome 7 7
752 CNG517 Congenital Agenesis of the Scrotum 7
753 NNS055 Non-Syndromic Preaxial Polydactyly 7
754 DST084 Distal Trisomy 8q 7
755 PRT235 Partial Deletion of the Long Arm of Chromosome 14 7
756 P ATS109 Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita 7
757 LCR016 Lacrimal Drainage System Anomaly 7
758 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 7
759 BNL004 Benallegue Lacete Syndrome 7
760 UNC003 Unicervical Bicornuate Uterus 7
761 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 7
762 CHN051 Choanal Atresia, Unilateral 7
763 PRT146 Partial Deletion of Chromosome 8 7
764 PRT149 Partial Deletion of Chromosome 7 7
765 PRT217 Partial Duplication of the Short Arm of Chromosome 4 7
766 PRT223 Partial Duplication of Chromosome 11 7
767 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 7
768 MCR184 Macrodactyly of Fingers 7
769 CNG289 Congenital Absence/hypoplasia of Thumb 7
770 RDL020 Radio-Ulnar Synostosis, Bilateral 7
771 PRT109 Partially Involuting Congenital Hemangioma 7
772 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
773 CNG334 Congenital Esophageal Diverticulum 7
774 c PTR023 Paternal Uniparental Disomy of Chromosome 13 7
775 SPN082 Spina Bifida Hypospadias 7
776 PRT216 Partial Trisomy of Chromosome 20 7
777 PRT244 Partial Deletion of the Short Arm of Chromosome 12 7
778 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 7
779 CNG107 Congenital Mitral Malformation 7
780 MLF005 Malformation Syndrome with Short Stature 7
781 P TSS001 Tessier Number 5 Facial Cleft 7
782 PRT143 Partial Deletion of Chromosome 5 7
783 21Q001 21q22.11q22.12 Microdeletion Syndrome 7
784 c MTR065 Maternal Uniparental Disomy of Chromosome 21 7
785 ECS003 Eec Syndrome and Related Disorders 7
786 P ISC012 Isochromosome Y 7
787 MLT170 Multiple Congenital Anomalies/dysmorphic Syndrome 6
788 PRT150 Partial Deletion of the Long Arm of Chromosome 12 6
789 PRT175 Partial Deletion of the Long Arm of Chromosome 2 6
790 1P3003 1p35.2 Microdeletion Syndrome 6
791 URG006 Urogenital Tract Malformation 6
792 ECT057 Ectasia of the Right Atrial Appendage 6
793 HYP850 Hypoglossia/aglossia 6
794 14Q003 14q11.2 Microduplication Syndrome 6
795 PRT229 Partial Duplication of Chromosome 2 6
796 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
797 PHK010 Phakomatosis Spilorosea 6
798 DST088 Distal Trisomy 1p36 6
799 SYN126 Syndromic Microspherophakia 6
800 c HYD017 Hydrocephalus Autosomal Recessive 6
801 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 6
802 CRN073 Coronary Arteries Congenital Malformation 6
803 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 6
804 c PRD024 Prader-Willi Syndrome Due to Translocation 6
805 PRT141 Partial Deletion of Chromosome 1 6
806 PRT158 Partial Deletion of the Short Arm of Chromosome 2 6
807 PRT172 Partial Deletion of the Short Arm of Chromosome 19 6
808 PRT176 Partial Deletion of the Long Arm of Chromosome 3 6
809 PRT189 Partial Duplication of the Long Arm of Chromosome 19 6
810 PRT192 Partial Duplication of the Long Arm of Chromosome 22 6
811 PRT209 Partial Duplication of the Short Arm of Chromosome 17 6
812 16Q002 16q24.1 Microdeletion Syndrome 6
813 UPP009 Upper Limb Hypertrophy 6
814 AML036 Amelia of Lower Limb 6
815 14Q005 14q24.1q24.3 Microdeletion Syndrome 6
816 9Q3001 9q31.1q31.3 Microdeletion Syndrome 6
817 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
818 DST077 Distal Trisomy 22q 6
819 c SCN083 Secondary Early-Onset Glaucoma 5
820 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 5
821 ISL044 Isolated Arhinencephaly 5
822 MLF009 Malformation of the Cerebellar Vermis 5
823 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 5
824 3Q2005 3q26q27 Microdeletion Syndrome 5
825 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 5
826 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 5
827 PRT249 Partial Autosomal Monosomy 5
828 c PTR020 Paternal Uniparental Disomy of Chromosome 20 5
829 DST067 Distal Monosomy 14q 5
830 CNG438 Congenital Disorder of Glycosylation with Developmental Anomaly 5
831 AGN009 Agenesis and Aplasia of Uterine Body 5
832 FCL034 Facial Dermoid Cyst 5
833 PRT168 Partial Deletion of the Short Arm of Chromosome 16 5
834 PRT195 Partial Duplication of the Long Arm of Chromosome 8 5
835 SPN268 Spondyloepimetaphyseal Dysplasia, Isidor Type 5
836 JNT005 Joint Formation Defects 5
837 SYN118 Syndrome with Limb Reduction Defects 5
838 HMR036 Humero-Ulnar Synostosis, Unilateral 5
839 HMR037 Humero-Ulnar Synostosis, Bilateral 5
840 SPR139 Superior Celosomia 5
841 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
842 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 5
843 c PRM303 Primary Early-Onset Glaucoma 5
844 ISL079 Isolated Encephalocele 5
845 NNT001 Neonatal Infective Mastitis 5
846 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 5
847 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 5
848 c CHR251 Chromosome 5, Uniparental Disomy 5
849 CLS021 Closed Iniencephaly 5
850 LWM001 Low Implantation of Placenta 4
851 NNS046 Non-Syndromic Urogenital Tract Malformation 4
852 PRT142 Partial Deletion of Chromosome 4 4
853 PRT157 Partial Deletion of Chromosome 19 4
854 MCR280 Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome 4
855 CNG518 Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome 4
856 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
857 c PTR022 Paternal Uniparental Disomy of Chromosome 7 4
858 NND007 Non-Distal Monosomy 12q 4
859 NND009 Non-Distal Trisomy 9q 4
860 c CNG593 Congenital Mitral Valve Insufficiency and/or Stenosis 4
861 SPN233 Spondyloepimetaphyseal Dysplasia, Bieganski Type 4
862 RDL025 Radial Deficiency-Tibial Hypoplasia Syndrome 4
863 NSL027 Nasal Dorsum Fistula 4
864 c PRT188 Partial Trisomy of the Long Arm of Chromosome 20 4
865 PRT212 Partial Duplication of the Short Arm of Chromosome 16 4
866 PRT220 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 4
867 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 4
868 ISL051 Isolated Partial Cerebellar Vermis Agenesis 4
869 c ISL052 Isolated Total Cerebellar Vermis Agenesis 4
870 ABN008 Abnormal Origin of the Pulmonary Artery 4
871 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 4
872 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
873 CNG269 Congenital Primary Megaureter, Refluxing Form 4
874 CNG270 Congenital Primary Megaureter, Obstructed Form 4
875 c PRM147 Primary Megaureter, Adult-Onset Form 4
876 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
877 CNG569 Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature 4
878 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 4
879 20Q002 20q11.2 Microduplication Syndrome 4
880 MDL018 Madelung Deformity, Unilateral 4
881 16P011 16p12.1p12.3 Triplication Syndrome 4
882 CNG331 Congenital Bilateral Megacalycosis 4
883 XLN147 X-Linked Intellectual Disability, Stoll Type 4
884 ATR095 Atrial Appendage Anomaly 4
885 DYS209 Dysostosis with Predominant Vertebral and Costal Involvement 4
886 XLN157 X-Linked Intellectual Disability, Porteous Type 4
887 ABN010 Abnormal Number of Coronary Ostia 4
888 PRS139 Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium 4
889 MLF008 Malformation of the Cerebellar Hemispheres 4
890 SBC038 Sub-Cortical Nodular Heterotopia 4
891 CNG606 Congenital Aortic Valve Dysplasia 4
892 c CTR008 Cataract Congenital Autosomal Dominant 4
893 MDN006 Median Cleft of the Upper Lip and Maxilla 4
894 PRT156 Partial Deletion of Chromosome 20 4
895 PRT233 Partial Duplication of Chromosome 6 4
896 SGM005 Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia 4
897 HMZ005 Homozygous 2p21 Microdeletion Syndrome 4
898 CNG316 Congenital Vertical Talus, Bilateral 4
899 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 4
900 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
901 c PTR021 Paternal Uniparental Disomy of Chromosome 21 4
902 SYN156 Syndrome with Limb Malformations As a Major Feature 4
903 SYN162 Syndromic Esophageal Malformation 4
904 c INT350 Intermediate Isolated Anorectal Malformation 3
905 FRN038 Frontonasal Arteriovenous Malformation 3
906 SYN111 Syndrome with a Cerebellar Malformation As Major Feature 3
907 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
908 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 3
909 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 3
910 SPR109 Supratip Dysplasia 3
911 DYS207 Dysostosis with Brachydactyly Without Extraskeletal Manifestations 3
912 NNS056 Non-Syndromic Complex Polydactyly 3
913 STR075 Straddling or Overriding Tricuspid Valve 3
914 BCK016 Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication 3
915 DYS210 Dysostosis with Predominant Craniofacial Involvement 3
916 SYN142 Syndrome with Synostosis or Other Joint Formation Defect 3
917 NNS060 Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy 3
918 CNG349 Congenital Patent Ductus Arteriosus Aneurysm 3
919 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 3
920 CNG361 Congenital Supravalvular Mitral Ring 3
921 MTR068 Mitral Valve Agenesis 3
922 LNS007 Lens Shape Anomaly 3
923 ANM025 Anomaly of the Mitral Subvalvular Apparatus 3
924 c GLC029 Glaucoma Type 1c 3
925 c GLC033 Glaucoma, Hereditary Adult Type 1a 3
926 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 3
927 c GLC035 Glaucoma, Primary Infantile Type 3a 3
928 NNS051 Non-Syndromic Urogenital Tract Malformation of Male 3
929 PRR036 Pierre Robin Syndrome Associated with Collagen Disease 3
930 PRR037 Pierre Robin Syndrome Associated with a Chromosomal Anomaly 3
931 TRT023 Teratogenic Pierre Robin Syndrome 3
932 P YCH005 Y Chromosome Number Anomaly 3
933 PRT232 Partial Trisomy/tetrasomy of Chromosome 5 3
934 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 3
935 CNG317 Congenital Genu Flexum 3
936 CNG321 Congenital Elbow Dislocation, Bilateral 3
937 DPH029 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome 3
938 c TTL013 Total Autosomal Trisomy 3
939 ATS455 Autosomal Uniparental Disomy 3
940 SXC005 Sex-Chromosome Number Anomaly 3
941 SXC006 Sex-Chromosome Structural Anomaly 3
942 SYN159 Syndromic Diaphragmatic or Abdominal Wall Malformation 3
943 MLF003 Malformative Syndrome with Dentinogenesis Imperfecta 3
944 NNS049 Non-Syndromic Uterovaginal Malformation 3
945 c 46X067 46,xx Disorder of Gonadal Development 3
946 NNS052 Non-Syndromic Urogenital Tract Malformation of Male and Female 2
947 XCH003 X Chromosome Number Anomaly with Female Phenotype 2
948 NNS065 Non-Syndromic Diaphragmatic or Abdominal Wall Malformation 2
949 NNS066 Non-Syndromic Visceral Malformation 2
950 NNS069 Non-Syndromic Esophageal Malformation 2
951 EMB004 Embryonal Carcinoma 57
952 c WLM018 Wilms Tumor 5 63
953 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 45
954 EMB006 Embryonal Testis Carcinoma 35
955 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 28
956 P CNT003 Central Nervous System Embryonal Carcinoma 10
957 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 22
958 INT041 Intratubular Embryonal Carcinoma 26
959 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 20
960 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 15
961 c WLM013 Wilms Tumor 1 69
962 c WLM011 Wilms Tumor 6 38
963 EMB015 Embryonal Tumor with Multilayered Rosettes 29
964 c WLM005 Wilms Tumor 2 27
965 P HRD009 Hereditary Wilms' Tumor 26
966 c WLM015 Wilms Tumor 3 18
967 c WLM017 Wilms Tumor 4 18
968 c FML094 Familial Wilms Tumor 2 9
969 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
970 TRT001 Teratocarcinoma 44
971 P END039 Endodermal Sinus Tumor 44
972 c ADL047 Adult Endodermal Sinus Tumor 9
973 P LFT003 Left Ventricular Noncompaction 55
974 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 43
975 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 38
976 c LFT021 Left Ventricular Noncompaction 1 35
977 P BTR001 Botryoid Rhabdomyosarcoma 33
978 c LFT017 Left Ventricular Noncompaction 8 28
979 c LFT018 Left Ventricular Noncompaction 10 25
980 c LFT020 Left Ventricular Noncompaction 7 21
981 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 18
982 c LFT011 Left Ventricular Noncompaction 2 17
983 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
984 c HYD046 Hydatidiform Mole, Recurrent, 1 62
985 P PTN014 Patent Ductus Arteriosus 1 60
986 GRM005 Germ Cell Cancer 47
987 EMB007 Embryonal Sarcoma 42
988 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 21
989 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 20
990 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
991 P FTL014 Fetal Brain Disruption Sequence 11
992 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 11
993 HYD069 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism 10
994 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
995 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
996 FTL017 Fetal Enterovirus Syndrome 2
997 P OST002 Osteoporosis 79
998 APR006 Apert Syndrome 70
999 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
1000 SMT004 Smith-Lemli-Opitz Syndrome 67
1001 P HLP001 Holoprosencephaly 67
1002 c MCL062 Mucolipidosis Ii Alpha/beta 67
1003 STH001 Saethre-Chotzen Syndrome 66
1004 P BRD002 Bardet-Biedl Syndrome 66
1005 P ANG001 Angelman Syndrome 65
1006 P MCK013 Meckel Syndrome, Type 1 64
1007 P ART005 Arteriovenous Malformation 63
1008 ART002 Arts Syndrome 63
1009 P CNG001 Congenital Myasthenic Syndrome 63
1010 P HYP055 Hypoplastic Left Heart Syndrome 63
1011 HLT001 Holt-Oram Syndrome 62
1012 c BRD010 Bardet-Biedl Syndrome 1 61
1013 P RNL100 Renal Hypodysplasia/aplasia 1 61
1014 c MCL013 Mucolipidosis Iv 60
1015 P MLG056 Malignant Hyperthermia 60
1016 MLT092 Multicentric Carpotarsal Osteolysis Syndrome 60
1017 P ERL057 Early Infantile Epileptic Encephalopathy 60
1018 P INT070 Intestinal Obstruction 60
1019 c CLR131 Ciliary Dyskinesia, Primary, 1 59
1020 ANG020 Angiosarcoma 59
1021 P MCR256 Microphthalmia, Syndromic 9 59
1022 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 59
1023 CHR101 Char Syndrome 58
1024 P MTC069 Mitochondrial Disorders 57
1025 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 57
1026 BRN056 Bronchopulmonary Dysplasia 57
1027 P BTH005 Bethlem Myopathy 1 56
1028 c HYP293 Hypophosphatasia, Adult 56
1029 c BRD014 Bardet-Biedl Syndrome 2 56
1030 c INT072 Intestinal Pseudo-Obstruction 55
1031 GRN034 Grange Syndrome 55
1032 c CNG216 Congenital Hydrocephalus 55
1033 DBL002 Double Outlet Right Ventricle 55
1034 OCL020 Ocular Cicatricial Pemphigoid 55
1035 c FRS014 Fraser Syndrome 1 55
1036 c AML044 Amelogenesis Imperfecta, Type Ig 55
1037 CLF004 Cleft Lip/palate 55
1038 OST024 Osteoporosis-Pseudoglioma Syndrome 55
1039 P ATR001 Atrioventricular Septal Defect 55
1040 P PSD015 Pseudohypoparathyroidism 54
1041 P JNC001 Junctional Epidermolysis Bullosa 54
1042 P PTS002 Ptosis 53
1043 EBS001 Ebstein Anomaly 53
1044 P PRS049 Persistent Mullerian Duct Syndrome 53
1045 c OST164 Osteoporosis, Juvenile 53
1046 P MRG008 Meier-Gorlin Syndrome 1 53
1047 P VSC013 Visceral Heterotaxy 53
1048 SPR004 Supravalvular Aortic Stenosis 52
1049 ACR058 Acrofacial Dysostosis 1, Nager Type 52
1050 GST009 Gastroschisis 52
1051 ACR011 Acromesomelic Dysplasia, Maroteaux Type 52
1052 DXT001 Dextrocardia 52
1053 P TRT010 Teratoma 52
1054 P BNM029 Bone Mineral Density Quantitative Trait Locus 15 51
1055 PLC008 Placenta Disease 51
1056 RNL078 Renal Dysplasia 51
1057 OCC006 Occipital Horn Syndrome 51
1058 JCK001 Jackson-Weiss Syndrome 51
1059 P NML001 Nemaline Myopathy 51
1060 c ACH041 Achondrogenesis, Type Ii 51
1061 VTR016 Vater/vacterl Association 51
1062 DYG001 Dyggve-Melchior-Clausen Disease 51
1063 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 51
1064 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 50
1065 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 50
1066 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 50
1067 c SPN330 Spondylocostal Dysostosis 5 49
1068 MYP136 Myopathy, Centronuclear, X-Linked 49
1069 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 49
1070 P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 49
1071 PYL017 Pyle Disease 48
1072 NRL002 Neurilemmomatosis 48
1073 c BRD016 Bardet-Biedl Syndrome 4 48
1074 c NML003 Nemaline Myopathy 2 48
1075 c NML002 Nemaline Myopathy 1 48
1076 P AML002 Amelogenesis Imperfecta 48
1077 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 48
1078 HYR002 Hoyeraal Hreidarsson Syndrome 48
1079 c ACH033 Achondrogenesis, Type Ia 48
1080 TTR011 Tetraploidy 47
1081 P KRN004 Kernicterus 47
1082 P CNG003 Congenital Dyserythropoietic Anemia 47
1083 c ART061 Arthrogryposis, Distal, Type 2a 47
1084 P GND004 Gonadal Dysgenesis 47
1085 c RBN022 Robinow Syndrome, Autosomal Recessive 1 47
1086 P CRN074 Coronary Artery Aneurysm 47
1087 P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 47
1088 MCR103 Microtia 47
1089 YLL001 Yellow Nail Syndrome 47
1090 c MCK032 Meckel Syndrome, Type 3 47
1091 CRD002 Cri-Du-Chat Syndrome 46
1092 c LKD010 Leukodystrophy, Hypomyelinating, 2 46
1093 P MCL001 Mucolipidosis 46
1094 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1095 P CPL014 Capillary Malformation-Arteriovenous Malformation 1 46
1096 c LKD019 Leukodystrophy, Hypomyelinating, 6 46
1097 NVS001 Neovascular Glaucoma 46
1098 c MLG081 Malignant Teratoma 46
1099 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 46
1100 c BRD013 Bardet-Biedl Syndrome 12 46
1101 FBL008 Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly 45
1102 P PRD037 Periodontal Ehlers-Danlos Syndrome 45
1103 P JVN008 Juvenile Glaucoma 45
1104 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 45
1105 MLT145 Multiple Enchondromatosis, Maffucci Type 45
1106 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 45
1107 BHR002 Bohring-Opitz Syndrome 45
1108 c BRD044 Bardet-Biedl Syndrome 17 45
1109 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 45
1110 LRY022 Laryngoonychocutaneous Syndrome 45
1111 c TRC092 Trichorhinophalangeal Syndrome, Type I 45
1112 c BRD018 Bardet-Biedl Syndrome 6 45
1113 c 46X001 46 Xy Gonadal Dysgenesis 45
1114 P CRN013 Craniodiaphyseal Dysplasia 45
1115 c CTR098 Cataract 1, Multiple Types 45
1116 c BRD015 Bardet-Biedl Syndrome 3 45
1117 c BRD020 Bardet-Biedl Syndrome 8 45
1118 HND004 Hand-Foot-Genital Syndrome 44
1119 STV003 Stuve-Wiedemann Syndrome 44
1120 P ACH011 Achondrogenesis 44
1121 ASP004 Asphyxia Neonatorum 44
1122 c HLP023 Holoprosencephaly 1 44
1123 P SYN075 Syngnathia 44
1124 P BRN006 Branchiootorenal Syndrome 44
1125 c BRD033 Bardet-Biedl Syndrome 13 44
1126 c NML004 Nemaline Myopathy 3 44
1127 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 44
1128 SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 44
1129 c ACH042 Achondrogenesis, Type Ib 44
1130 SHR044 Short Rib-Polydactyly Syndrome 44
1131 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
1132 c BRC052 Brachydactyly, Type B2 44
1133 P ECT005 Ectropion 44
1134 c HLP026 Holoprosencephaly 3 43
1135 c LKD015 Leukodystrophy, Hypomyelinating, 3 43
1136 c USH035 Usher Syndrome Type 2 43
1137 c BRD012 Bardet-Biedl Syndrome 11 43
1138 c RNL122 Renal Hypodysplasia/aplasia 3 43
1139 c MCK012 Meckel Syndrome, Type 6 43
1140 c MLG147 Malignant Hyperthermia 1 43
1141 P CRB154 Cerebrocostomandibular Syndrome 43
1142 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 43
1143 c 46X002 46 Xx Gonadal Dysgenesis 43
1144 c BRD011 Bardet-Biedl Syndrome 10 43
1145 OVR112 Ovarian Germ Cell Cancer 43
1146 c HLP024 Holoprosencephaly 2 42
1147 WYR002 Weyers Acrofacial Dysostosis 42
1148 c HLP029 Holoprosencephaly 4 42
1149 MDL009 Medullary Sponge Kidney 42
1150 P CHR342 Chiari Malformation 42
1151 BMR001 Boomerang Dysplasia 42
1152 P GLP001 Geleophysic Dysplasia 42
1153 CNG069 Congenital Cytomegalovirus 42
1154 c LTH007 Lethal Congenital Contracture Syndrome 1 42
1155 c BRD017 Bardet-Biedl Syndrome 5 42
1156 TRP009 Triple X Syndrome 42
1157 CHR492 Chromosome 13q14 Deletion Syndrome 42
1158 c BRD032 Bardet-Biedl Syndrome 14 42
1159 BRT059 Bartsocas-Papas Syndrome 41
1160 P TRC031 Trichorhinophalangeal Syndrome 41
1161 TRP014 Triploidy 41
1162 CHR211 Chromosome 18p Deletion Syndrome 41
1163 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 41
1164 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 41
1165 c SCP001 Sc Phocomelia Syndrome 41
1166 c HYP543 Hypoplastic Left Heart Syndrome 1 41
1167 c CHR579 Chiari Malformation Type Ii 41
1168 ACR043 Acromicric Dysplasia 41
1169 LCR013 Lacrimal Duct Defect 41
1170 c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 41
1171 c MCK031 Meckel Syndrome, Type 2 41
1172 c LKD009 Leukodystrophy, Hypomyelinating, 5 40
1173 c MYS078 Myasthenic Syndrome, Congenital, 14 40
1174 c VNM003 Van Maldergem Syndrome 1 40
1175 SCH037 Schinzel-Giedion Midface Retraction Syndrome 40
1176 CHR659 Chromosome 22q11.2 Duplication Syndrome 40
1177 TRP006 Tarp Syndrome 40
1178 c BRN131 Branchiootorenal Syndrome 1 40
1179 c NML005 Nemaline Myopathy 4 40
1180 c BRD048 Bardet-Biedl Syndrome 18 40
1181 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 39
1182 P ECT045 Ectodermal Dysplasia-Syndactyly Syndrome 1 39
1183 PLN006 Poland Syndrome 39
1184 P MCR364 Macrodactyly 39
1185 c ANT071 Anterior Segment Dysgenesis 4 39
1186 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 39
1187 c BRD035 Bardet-Biedl Syndrome 15 39
1188 P OMD003 Omodysplasia 39
1189 GST052 Gestational Choriocarcinoma 39
1190 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 39
1191 c CNG513 Congenital Ptosis 39
1192 c MYS075 Myasthenic Syndrome, Congenital, 13 39
1193 c MYS052 Myasthenic Syndrome, Congenital, 10 39
1194 ACR016 Acromesomelic Dysplasia 39
1195 WHT019 White-Sutton Syndrome 39
1196 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 39
1197 ANM001 Anemia of Prematurity 38
1198 CRY032 Carey-Fineman-Ziter Syndrome 38
1199 c NML006 Nemaline Myopathy 5 38
1200 CHR386 Chromosome 6pter-P24 Deletion Syndrome 38
1201 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 38
1202 c MCK014 Meckel Syndrome, Type 5 38
1203 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 38
1204 OGD001 Ogden Syndrome 38
1205 P BRC003 Brachyolmia 38
1206 BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 38
1207 TRC097 Tracheomalacia 38
1208 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 38
1209 c BRD047 Bardet-Biedl Syndrome 16 37
1210 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 37
1211 LTR009 Lateral Meningocele Syndrome 37
1212 LRN006 Laurin-Sandrow Syndrome 37
1213 P PRR025 Perrault Syndrome 37
1214 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
1215 ART127 Arthrogryposis Multiplex Congenita, Neurogenic Type 37
1216 CRN088 Craniorachischisis 37
1217 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 37
1218 c BRD019 Bardet-Biedl Syndrome 7 37
1219 ASC009 Ascites, Chylous 37
1220 c MCK033 Meckel Syndrome, Type 4 36
1221 OST062 Osteoarthritis with Mild Chondrodysplasia 36
1222 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
1223 CHN040 Choanal Atresia and Lymphedema 36
1224 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
1225 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 36
1226 c WLL037 Weill-Marchesani Syndrome 2 36
1227 END059 Endocrine-Cerebroosteodysplasia 36
1228 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 36
1229 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 36
1230 c ART119 Arthrogryposis, Distal, Type 5 36
1231 c ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36
1232 CRD017 Cardiac Valvular Dysplasia, X-Linked 36
1233 c HTR021 Heterotaxy, Visceral, 5, Autosomal 35
1234 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 35
1235 c HLP028 Holoprosencephaly 5 35
1236 P ENT005 Entropion 35
1237 c PNT043 Pontocerebellar Hypoplasia, Type 4 35
1238 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 35
1239 P PLM149 Palmoplantar Keratoderma and Congenital Alopecia 2 35
1240 ACR009 Acromesomelic Dysplasia, Hunter-Thompson Type 35
1241 BLR028 Biliary Atresia, Extrahepatic 35
1242 c AML020 Amelogenesis Imperfecta, Type Iv 35
1243 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 35
1244 c LKD008 Leukodystrophy, Hypomyelinating, 4 35
1245 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
1246 ACR002 Acrocapitofemoral Dysplasia 35
1247 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 35
1248 c AML061 Amelogenesis Imperfecta, Type Ie 35
1249 PLY036 Polyembryoma 35
1250 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 35
1251 CHR225 Chromosome 1q21.1 Duplication Syndrome 35
1252 SPN360 Spondylometaphyseal Dysplasia, Corner Fracture Type 34
1253 DND005 Dandy-Walker Complex 34
1254 P MTP005 Metaphyseal Anadysplasia 34
1255 PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 34
1256 ISL109 Isolated Cleft Lip 34
1257 ISL062 Isolated Plagiocephaly 34
1258 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
1259 OLG021 Oligomeganephronia 34
1260 DYS048 Dysplasia Epiphysealis Hemimelica 34
1261 RFM001 Roifman Syndrome 34
1262 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 34
1263 LMB008 Limb-Mammary Syndrome 34
1264 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 34
1265 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
1266 c BRD045 Bardet-Biedl Syndrome 19 33
1267 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 33
1268 FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 33
1269 P CHR084 Chromosomal Disease 33
1270 CYS021 Cystic Adenomatoid Malformation of Lung 33
1271 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 33
1272 c MCR245 Microphthalmia, Syndromic 8 33
1273 P ALB023 Albinism, Ocular, with Sensorineural Deafness 33
1274 c FML084 Familial Porencephaly 33
1275 MCR025 Microhydranencephaly 33
1276 c KNN009 Kenny-Caffey Syndrome, Type 1 33
1277 SCH030 Schneckenbecken Dysplasia 33
1278 c MYS076 Myasthenic Syndrome, Congenital, 8 33
1279 SPN154 Spondyloperipheral Dysplasia 33
1280 c GLP003 Geleophysic Dysplasia 1 33
1281 BRN133 Bronchomalacia 33
1282 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 32
1283 c MYS067 Myasthenic Syndrome, Congenital, 22 32
1284 OTD001 Otodental Dysplasia 32
1285 ALZ030 Alazami Syndrome 32
1286 CHR581 Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb 32
1287 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 32
1288 PRP093 Pierpont Syndrome 32
1289 PHC018 Phace Association 32
1290 SPN302 Spondylometaphyseal Dysplasia, Kozlowski Type 32
1291 c MYS056 Myasthenic Syndrome, Congenital, 17 32
1292 c MCR252 Microphthalmia, Syndromic 5 32
1293 c AML057 Amelogenesis Imperfecta, Type Iiia 32
1294 c BRD021 Bardet-Biedl Syndrome 9 32
1295 MSC020 Mosaic Trisomy 8 32
1296 c BTH006 Bethlem Myopathy 2 32
1297 c AML017 Amelogenesis Imperfecta, Type Ib 32
1298 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 32
1299 CHN019 Chand Syndrome 31
1300 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 31
1301 PNC120 Pancreas, Dorsal, Agenesis of 31
1302 CRB208 Cerebral Malformation 31
1303 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1304 TKN001 Takenouchi-Kosaki Syndrome 31
1305 c CPL015 Capillary Malformation-Arteriovenous Malformation 2 31
1306 c RNG029 Ring Chromosome 14 Syndrome 31
1307 CHR582 Chromosome 3q29 Duplication Syndrome 31
1308 c MCK034 Meckel Syndrome, Type 8 30
1309 DYS045 Dysosteosclerosis 30
1310 P PLM182 Pulmonary Hypoplasia, Primary 30
1311 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 30
1312 CRT069 Cortical Malformations, Occipital 30
1313 PLM058 Pulmonary Atresia with Intact Ventricular Septum 30
1314 MTR087 Maternal Uniparental Disomy 30
1315 SPN012 Spindle Cell Hemangioma 30
1316 c ATS076 Autosomal Recessive Stickler Syndrome 30
1317 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 30
1318 c MYS074 Myasthenic Syndrome, Congenital, 12 30
1319 IVC001 Ivic Syndrome 30
1320 P HYP700 Hypomyelinating Leukodystrophy 30
1321 c GLP004 Geleophysic Dysplasia 2 30
1322 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 30
1323 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 30
1324 AMN014 Aminopterin Syndrome Sine Aminopterin 30
1325 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
1326 P VNM004 Van Maldergem Syndrome 30
1327 ACR017 Acrofacial Dysostosis 30
1328 MLL011 Mullerian Aplasia and Hyperandrogenism 30
1329 c HTR010 Heterotaxy, Visceral, 4, Autosomal 30
1330 SPN352 Spondyloepimetaphyseal Dysplasia, Genevieve Type 29
1331 OCC011 Occipital Encephalocele 29
1332 c RNG018 Ring Chromosome 22 29
1333 CNS013 Constricting Bands, Congenital 29
1334 DGT009 Digitotalar Dysmorphism 29
1335 c MLT138 Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum 29
1336 c HLP025 Holoprosencephaly 9 29
1337 HYP364 Hyperostosis Frontalis Interna 29
1338 WRF003 Warfarin Syndrome 29
1339 c SVR040 Severe Congenital Nemaline Myopathy 29
1340 c CNG509 Congenital Anomalies of Kidney and Urinary Tract 1 29
1341 JBR007 Joubert Syndrome with Renal Anomalies 29
1342 UVL009 Uvula, Bifid 29
1343 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 29
1344 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 29
1345 c PRR020 Perrault Syndrome 1 28
1346 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 28
1347 c MLG151 Malignant Hyperthermia 5 28
1348 SPN391 Spondyloepiphyseal Dysplasia, Maroteaux Type 28
1349 DSN002 Desanto-Shinawi Syndrome 28
1350 c MCR329 Microcephaly, Autosomal Dominant 28
1351 c LSS009 Lissencephaly 3 28
1352 INN003 Iniencephaly 28
1353 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 28
1354 c RNG005 Ring Chromosome 10 28
1355 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
1356 c BNM015 Bone Mineral Density Quantitative Trait Locus 18 28
1357 DFN039 Deafness-Infertility Syndrome 28
1358 FTL007 Fetal Hydantoin Syndrome 28
1359 c PNT033 Pontocerebellar Hypoplasia, Type 10 28
1360 c MCK035 Meckel Syndrome, Type 10 28
1361 CYS041 Cystic Angiomatosis of Bone, Diffuse 28
1362 FRS007 Frias Syndrome 28
1363 c SYN060 Syndactyly, Type Iii 28
1364 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 28
1365 c RNG022 Ring Chromosome 6 28
1366 WLD004 Wildervanck Syndrome 28
1367 c NML007 Nemaline Myopathy 6 28
1368 c NML022 Nemaline Myopathy 10 28
1369 c HYP723 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 28
1370 P MTR051 Maternal Uniparental Disomy of Chromosome 1 28
1371 FCL047 Facial Clefting, Oblique, 1 28
1372 P TTH021 Tethered Cord Syndrome 28
1373 c MCK028 Meckel Syndrome 13 28
1374 NBL001 Nablus Mask-Like Facial Syndrome 27
1375 ISL061 Isolated Brachycephaly 27
1376 LYM122 Lymphangiectasia, Pulmonary, Congenital 27
1377 c INT274 Intermediate Congenital Nemaline Myopathy 27
1378 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 27
1379 c HLP027 Holoprosencephaly 7 27
1380 RHM015 Rhombencephalosynapsis 27
1381 c CLR090 Ciliary Dyskinesia, Primary, 22 27
1382 MSM004 Mesomelia-Synostoses Syndrome 27
1383 c RNG010 Ring Chromosome 15 27
1384 c RNG015 Ring Chromosome 2 27
1385 c LKD020 Leukodystrophy, Hypomyelinating, 10 27
1386 c CRN303 Corneal Dystrophy, Posterior Polymorphous, 2 27
1387 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 27
1388 CLF049 Cleft Lip and Alveolus 27
1389 PRX085 Preaxial Hallucal Polydactyly 27
1390 THR032 Thoracolaryngopelvic Dysplasia 27
1391 c PRR026 Perrault Syndrome 5 27
1392 CRT028 Cor Triatriatum 27
1393 c HLP016 Holoprosencephaly 11 27
1394 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 27
1395 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 27
1396 c VNM002 Van Maldergem Syndrome 2 27
1397 PLM013 Pulmonary Immaturity 27
1398 c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 27
1399 12Q002 12q14 Microdeletion Syndrome 27
1400 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 27
1401 c BRD050 Bardet-Biedl Syndrome 21 27
1402 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
1403 HRY005 Hairy Elbows 27
1404 c MRG010 Meier-Gorlin Syndrome 3 26
1405 FTL073 Fetal Anticonvulsant Syndrome 26
1406 WLL012 Williams-Beuren Region Duplication Syndrome 26
1407 P RNL123 Renal Agenesis, Bilateral 26
1408 MCR315 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 26
1409 URC005 Urachal Cyst 26
1410 P RCR026 Recurrent Hydatidiform Mole 26
1411 NRD028 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies 26
1412 c ATR047 Atrioventricular Septal Defect 2 26
1413 c LKD016 Leukodystrophy, Hypomyelinating, 9 26
1414 c ADL057 Adult Teratoma 26
1415 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 26
1416 c HTR009 Heterotaxy, Visceral, 2, Autosomal 26
1417 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 26
1418 FTL064 Fetal Methylmercury Syndrome 26
1419 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
1420 P HYP714 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 26
1421 c TRS012 Trisomy 22 26
1422 CNG506 Congenital Amyoplasia 26
1423 FTL062 Fetal Iodine Deficiency Disorder 26
1424 P PLM069 Pulmonary Venous Return Anomaly 26
1425 c MRG015 Meier-Gorlin Syndrome 7 26
1426 CHR229 Chromosome 20p Duplication 26
1427 c CLR134 Ciliary Dyskinesia, Primary, 3 26
1428 CNG489 Congenital Herpes Simplex Virus Infection 26
1429 WSM003 Weismann-Netter Syndrome 26
1430 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 26
1431 c MYS064 Myasthenic Syndrome, Congenital, 16 26
1432 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
1433 UNL005 Unilateral Polymicrogyria 25
1434 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
1435 ACR039 Acromegaloid Hypertrichosis Syndrome 25
1436 BLP041 Blepharochalasis and Double Lip 25
1437 MYP038 Myopathy, Congenital, Compton-North 25
1438 CHR190 Chromosome 12p Duplication 25
1439 MCR321 Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 25
1440 c CTR116 Cataract 15, Multiple Types 25
1441 c MNS008 Monosomy 21 25
1442 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 25
1443 NNG001 Non-Gestational Choriocarcinoma 25
1444 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 25
1445 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
1446 c PRR022 Perrault Syndrome 2 25
1447 16Q001 16q24.3 Microdeletion Syndrome 25
1448 THR101 Thrombocytopenia, Paris-Trousseau Type 25
1449 CHR248 Chromosome 4p Duplication 25
1450 c NML010 Nemaline Myopathy 7 25
1451 ISL087 Isolated Oxycephaly 25
1452 CRB211 Cerebral Cortical Dysplasia 25
1453 P PHC014 Phocomelia 25
1454 KPR002 Kapur-Toriello Syndrome 25
1455 c LKD021 Leukodystrophy, Hypomyelinating, 11 25
1456 CLN022 Colonic Atresia 25
1457 P PRC050 Pericardium Disease 25
1458 c PRR024 Perrault Syndrome 3 25
1459 c FRS016 Fraser Syndrome 2 25
1460 PGD001 Pagod Syndrome 25
1461 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
1462 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 25
1463 c PRR021 Perrault Syndrome 4 25
1464 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 25
1465 c AML047 Amelogenesis Imperfecta, Type Ia 25
1466 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 25
1467 PRT043 Parietal Foramina with Cleidocranial Dysplasia 25
1468 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25
1469 c FCL046 Focal Facial Dermal Dysplasia 4 25
1470 c MYS077 Myasthenic Syndrome, Congenital, 15 25
1471 c MRG011 Meier-Gorlin Syndrome 4 24
1472 CHR265 Chromosome 8p Duplication 24
1473 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
1474 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 24
1475 CHR212 Chromosome 18p Duplication 24
1476 CLF048 Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 24
1477 OCL030 Oculoauriculofrontonasal Syndrome 24
1478 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 24
1479 NNG002 Non-Gestational Ovarian Choriocarcinoma 24
1480 c CTR182 Cataract 23, Multiple Types 24
1481 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 24
1482 c CLR136 Ciliary Dyskinesia, Primary, 9 24
1483 HGH023 High Bone Mass Osteogenesis Imperfecta 24
1484 LBN004 Liebenberg Syndrome 24
1485 c CTR124 Cataract 10, Multiple Types 24
1486 CHR209 Chromosome 17p Duplication 24
1487 c ATR067 Atrioventricular Septal Defect 4 24
1488 c EPL240 Epileptic Encephalopathy, Early Infantile, 75 24
1489 HRD037 Hardikar Syndrome 24
1490 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 24
1491 c MLG148 Malignant Hyperthermia 2 24
1492 c HYD041 Hydatidiform Mole, Recurrent, 2 24
1493 c RNG021 Ring Chromosome 5 24
1494 ULN023 Ulnar Hypoplasia 24
1495 PTR034 Paternal Uniparental Disomy 24
1496 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
1497 HLP019 Holoprosencephaly, Semilobar, with Craniosynostosis 24
1498 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 24
1499 MTP023 Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly 24
1500 c CHR565 Chromosomal Deletion Syndrome 24
1501 c LKD022 Leukodystrophy, Hypomyelinating, 13 24
1502 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
1503 YNH001 Yuan-Harel-Lupski Syndrome 24
1504 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 24
1505 c CTR105 Cataract 12, Multiple Types 24
1506 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
1507 HLZ001 Holzgreve Syndrome 24
1508 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
1509 c HYP831 Hyperparathyroidism, Transient Neonatal 24
1510 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 24
1511 c MRG009 Meier-Gorlin Syndrome 2 23
1512 c BRD051 Bardet-Biedl Syndrome 20 23
1513 c RNG024 Ring Chromosome 8 23
1514 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 23
1515 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
1516 c MRG014 Meier-Gorlin Syndrome 6 23
1517 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 23
1518 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 23
1519 c JVN025 Juvenile Primary Osteoporosis 23
1520 P ART034 Aortopulmonary Window 23
1521 RDL039 Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome 23
1522 c GLP007 Geleophysic Dysplasia 3 23
1523 c ATR071 Atrioventricular Septal Defect 5 23
1524 HRT018 Heart-Hand Syndrome, Slovenian Type 23
1525 c NML021 Nemaline Myopathy 9 23
1526 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
1527 c HTR018 Heterotaxy, Visceral, 7, Autosomal 23
1528 CHR498 Chromosome 16p11.2 Duplication Syndrome 23
1529 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
1530 CHR252 Chromosome 5p Duplication 23
1531 c DKP001 Dk Phocomelia Syndrome 23
1532 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 23
1533 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
1534 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
1535 c HTR023 Heterotaxy, Visceral, 6, Autosomal 23
1536 TTR016 Tetra-Amelia Syndrome 23
1537 c HLP022 Holoprosencephaly 8 23
1538 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 23
1539 INT312 Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 23
1540 SCH055 Schilbach-Rott Syndrome 23
1541 ORF053 Orofacial Clefting Syndrome 23
1542 c MYS065 Myasthenic Syndrome, Congenital, 18 23
1543 c LKD023 Leukodystrophy, Hypomyelinating, 12 23
1544 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
1545 c LKD030 Leukodystrophy, Hypomyelinating, 17 23
1546 CHN050 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 23
1547 OSB001 Osebold-Remondini Syndrome 23
1548 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
1549 c CCK004 Cockayne Syndrome Type Iii 23
1550 c MCR228 Microphthalmia, Syndromic 13 23
1551 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
1552 LLS001 Lelis Syndrome 22
1553 VNT030 Ventriculomegaly with Cystic Kidney Disease 22
1554 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
1555 RDL022 Radial Hemimelia 22
1556 c LKD031 Leukodystrophy, Hypomyelinating, 18 22
1557 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 22
1558 c EPL241 Epileptic Encephalopathy, Early Infantile, 76 22
1559 c ORF041 Orofaciodigital Syndrome X 22
1560 c AML048 Amelogenesis Imperfecta, Type Ih 22
1561 c RNG019 Ring Chromosome 3 22
1562 DPL009 Duplication of the Pituitary Gland 22
1563 c BRN086 Branchiootorenal Syndrome 2 22
1564 c MYS070 Myasthenic Syndrome, Congenital, 19 22
1565 c LKD027 Leukodystrophy, Hypomyelinating, 14 22
1566 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 22
1567 P ERL043 Early-Onset Nuclear Cataract 22
1568 c PTN013 Patent Ductus Arteriosus 2 22
1569 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 22
1570 JNT001 Joint Laxity, Familial 22
1571 c ADL068 Adult-Onset Nemaline Myopathy 22
1572 CRB165 Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 22
1573 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
1574 c LTH032 Lethal Congenital Contracture Syndrome 7 22
1575 c MRG012 Meier-Gorlin Syndrome 5 22
1576 c ACR105 Acrofrontofacionasal Dysostosis 2 22
1577 c FRS015 Fraser Syndrome 3 22
1578 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
1579 c BRN138 Branchiootorenal Spectrum Disorder 22
1580 c MCK020 Meckel Syndrome, Type 11 22
1581 c LKD028 Leukodystrophy, Hypomyelinating, 15 22
1582 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 22
1583 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
1584 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1585 c AML018 Amelogenesis Imperfecta, Type Ic 22
1586 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 22
1587 MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21
1588 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
1589 DFF027 Diffuse Lymphatic Malformation 21
1590 CRS011 Criss-Cross Heart 21
1591 c CRN306 Corneal Dystrophy, Posterior Polymorphous, 4 21
1592 c MLG149 Malignant Hyperthermia 3 21
1593 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 21
1594 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 21
1595 DFN308 Deafness, Progressive, with Stapes Fixation 21
1596 c MLG150 Malignant Hyperthermia 4 21
1597 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
1598 ORB019 Orbital Margin, Hypoplasia of 21
1599 ALR004 Alar Cleft, Isolated 21
1600 VNF001 Vein of Galen Aneurysm 21
1601 BLT020 Bilateral Multicystic Dysplastic Kidney 21
1602 c MCK036 Meckel Syndrome, Type 9 21
1603 IST006 Isotretinoin Syndrome 21
1604 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 21
1605 c HTR020 Heterotaxy, Visceral, 8, Autosomal 21
1606 ECT085 Ectopia Cordis 21
1607 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
1608 c AML059 Amelogenesis Imperfecta, Type Ij 21
1609 OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 21
1610 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 21
1611 DPR014 Diprosopus 21
1612 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
1613 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 20
1614 c INT005 Intermediate Malignant Teratoma 20
1615 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 20
1616 c RNG025 Ring Chromosome 9 20
1617 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 20
1618 TTR019 Tetrasomy 5p 20
1619 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
1620 c AML050 Amelogenesis Imperfecta, Type if 20
1621 ATR053 Atresia of Urethra 20
1622 RTH002 Rutherfurd Syndrome 20
1623 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 20
1624 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 20
1625 c ART131 Arthrogryposis, Distal, Type 4 20
1626 CRT061 Cor Triatriatum Dexter 20
1627 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
1628 MSC017 Mosaic Trisomy 22 20
1629 ERM001 Ermine Phenotype 20
1630 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 20
1631 c MTP014 Metaphyseal Anadysplasia 2 20
1632 8PN001 8p Inverted Duplication/deletion Syndrome 20
1633 c RNL099 Renal Hypodysplasia/aplasia 2 20
1634 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 20
1635 c ATR064 Atrioventricular Septal Defect 3 20
1636 c LKD029 Leukodystrophy, Hypomyelinating, 16 19
1637 c MLG152 Malignant Hyperthermia 6 19
1638 CHR483 Chromosome 3q13.31 Deletion Syndrome 19
1639 c CHR227 Chromosome 20 Trisomy 19
1640 CHR241 Chromosome 2q24 Microdeletion Syndrome 19
1641 c ATS454 Autosomal Trisomy 19
1642 c RNG006 Ring Chromosome 11 19
1643 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 19
1644 PRG122 Prognathism, Mandibular 19
1645 DRM042 Dermatoosteolysis, Kirghizian Type 19
1646 CRB161 Cerebellar Ataxia and Ectodermal Dysplasia 19
1647 FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 19
1648 c PRR033 Perrault Syndrome 6 19
1649 RGH010 Right Ventricular Hypoplasia, Isolated 19
1650 ODN020 Odontoma-Dysphagia Syndrome 19
1651 c MRG016 Meier-Gorlin Syndrome 8 19
1652 PRR029 Pierre Robin Syndrome and Oligodactyly 19
1653 UNL014 Unilateral Multicystic Dysplastic Kidney 18
1654 FTL018 Fetal Indomethacin Syndrome 18
1655 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
1656 c CNG579 Congenital Nemaline Myopathy 18
1657 CLF033 Cleft Mitral Valve 18
1658 OCL057 Oculotrichodysplasia 18
1659 ZCH002 Zechi-Ceide Syndrome 18
1660 PLD002 Pilodental Dysplasia with Refractive Errors 18
1661 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 18
1662 HMF007 Hemifacial Hyperplasia with Strabismus 18
1663 P CNG070 Congenital Dislocation of the Patella 18
1664 1QD001 1q Duplications 18
1665 EPB002 Epiblepharon 18
1666 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 18
1667 LMB057 Lumbosacral Spina Bifida Aperta 18
1668 MCR307 Microspherophakia-Metaphyseal Dysplasia 18
1669 PRM334 Primary Bone Dysplasia with Increased Bone Density 18
1670 ATR019 Atrial Septal Defect Sinus Venosus 18
1671 KPS005 Kaposiform Lymphangiomatosis 18
1672 P ATS469 Autosomal Monosomy 18
1673 DST059 Distal Trisomy 17q 18
1674 SBR011 Subaortic Stenosis--Short Stature Syndrome 18
1675 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 17
1676 UPN001 Upington Disease 17
1677 c PRG096 Pregnancy Loss, Recurrent 2 17
1678 RDL030 Radial-Renal Syndrome 17
1679 CHR612 Chromosome 15q14 Deletion Syndrome 17
1680 DST037 Distal Monosomy 9p 17
1681 c AML064 Amelogenesis Imperfecta, Type Iiic 17
1682 MMB012 Membranous Cranial Ossification, Delayed 17
1683 HLP020 Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence 17
1684 MCR303 Macrosomia with Microphthalmia, Lethal 17
1685 ILL003 Illum Syndrome 17
1686 SMS004 Simosa Craniofacial Syndrome 17
1687 UPP007 Upper Thoracic Spina Bifida Cystica 17
1688 UPP008 Upper Thoracic Spina Bifida Aperta 17
1689 THR085 Thoracolumbosacral Spina Bifida Aperta 17
1690 ANR043 Aniridia and Absent Patella 17
1691 MSC081 Mosaic Trisomy 15 17
1692 DRL001 Dural Sinus Malformation 17
1693 TBL027 Tubulinopathy-Associated Dysgyria 17
1694 c RNG014 Ring Chromosome 19 17
1695 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 17
1696 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 17
1697 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 17
1698 c RNG011 Ring Chromosome 16 17
1699 ANG067 Angioma, Hereditary Neurocutaneous 17
1700 c HLP021 Holoprosencephaly 6 17
1701 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 17
1702 MSM018 Mesomelic Limb Shortening and Bowing 17
1703 c NNS019 Nonsyndromic Holoprosencephaly 17
1704 CMM018 Common Mesentery 17
1705 c CNG540 Congenital Anomalies of Kidney and Urinary Tract 3 16
1706 BND017 Bone Dysplasia, Lethal, Holmgren Type 16
1707 SPS192 Spastic Paraparesis and Deafness 16
1708 CLF034 Cleft Hard Palate 16
1709 ISL118 Isolated Tracheoesophageal Fistula 16
1710 CNT114 Central Nervous System Malformation 16
1711 BLT023 Bilateral Acute Depigmentation of the Iris 16
1712 BKS002 Book Syndrome 16
1713 c PTS018 Ptosis, Hereditary Congenital 1 16
1714 TRG007 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 16
1715 AML012 Ameloonychohypohidrotic Syndrome 16
1716 BWN005 Bowing of Long Bones Congenital 16
1717 MTH070 Methimazole Antenatal Exposure 16
1718 c MTR067 Maternal Uniparental Disomy of Chromosome 16 16
1719 BMR004 Beemer Lethal Malformation Syndrome 16
1720 TRS011 Trisomy 2 Mosaicism 16
1721 CMP073 Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia 16
1722 ANR044 Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 16
1723 DDL001 Didelphys Uterus 16
1724 16P003 16p13.11 Microdeletion Syndrome 16
1725 c AML056 Amelogenesis Imperfecta, Type Iiib 16
1726 DPH023 Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull 16
1727 HYD021 Hydrocephalus Obesity Hypogonadism 16
1728 TLP002 Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals 16
1729 DYS183 Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 16
1730 PCT002 Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails 16
1731 PYK001 Pyknoachondrogenesis 16
1732 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 16
1733 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 16
1734 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 16
1735 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 16
1736 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 16
1737 SBP005 Subpulmonary Stenosis 15
1738 c PTS010 Ptosis, Hereditary Congenital 2 15
1739 DSL002 Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism 15
1740 XP2001 Xp22.3 Microdeletion Syndrome 15
1741 OST148 Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 15
1742 TTH022 Teeth, Congenital Absence of, with Taurodontia and Sparse Hair 15
1743 ODN008 Odontomicronychial Dysplasia 15
1744 c PRG093 Pregnancy Loss, Recurrent 3 15
1745 LSS034 Lissencephaly Type Iii and Bone Dysplasia 15
1746 ECT086 Ectrodactyly-Polydactyly 15
1747 ESP040 Esophageal Duplication Cyst 15
1748 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 15
1749 CRT079 Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 15
1750 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1751 c HYD068 Hydatidiform Mole, Recurrent, 4 15
1752 VLF001 Velofacioskeletal Syndrome 15
1753 ECT091 Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 15
1754 NDL022 Nodular Neuronal Heterotopia 15
1755 PRT237 Partial Deletion of the Long Arm of Chromosome 16 15
1756 3Q2006 3q27.3 Microdeletion Syndrome 15
1757 P LTH050 Lethal Chondrodysplasia 15
1758 c CTR176 Cataract, Age-Related Nuclear 15
1759 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 15
1760 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 15
1761 c HTR012 Heterotaxy, Visceral, 3, Autosomal 15
1762 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 15
1763 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 15
1764 ADC008 Adactylia, Unilateral 15
1765 CMP079 Complete Septate Uterus 15
1766 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 15
1767 FRN047 Frontonasal Dysplasia with Alar Clefts 15
1768 TYS007 Tyshchenko Syndrome 15
1769 RNL109 Renal Hypoplasia, Bilateral 15
1770 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 14
1771 PRB002 Proboscis Lateralis 14
1772 PRR030 Pierre Robin Sequence with Facial and Digital Anomalies 14
1773 PHL009 Phalangeal Microgeodic Syndrome 14
1774 c MTR061 Maternal Uniparental Disomy of Chromosome 6 14
1775 CMP098 Complex Vascular Malformation with Associated Anomalies 14
1776 c ISC010 Isochromosome Yp 14
1777 20Q003 20q11.2 Microdeletion Syndrome 14
1778 PRS111 Persistent Fifth Aortic Arch 14
1779 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 14
1780 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 14
1781 BNK001 Banki Syndrome 14
1782 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1783 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 14
1784 FRT004 Fourth Branchial Cleft Anomaly 14
1785 RCT033 Rectal Duplication 14
1786 49X005 49, Xxxyy Syndrome 14
1787 VCL007 Vocal Cord Paralysis and Ptosis 14
1788 DST069 Distal Monosomy 12q 14
1789 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 13
1790 c PTR011 Paternal Uniparental Disomy of Chromosome 1 13
1791 CMP022 Camptodactyly Taurinuria 13
1792 MSC079 Mosaic Trisomy 1 13
1793 c CMP100 Campomelic Dysplasia and Related Disorders 13
1794 CRY037 Cryptophthalmia 13
1795 PRT178 Partial Deletion of the Long Arm of Chromosome 5 13
1796 RDL031 Radial Aplasia, X-Linked 13
1797 GRH002 Graham Boyle Troxell Syndrome 13
1798 CRN310 Cranial Malformation 13
1799 20P001 20p12.3 Microdeletion Syndrome 13
1800 c RNG031 Ring Chromosome Y Syndrome 13
1801 CNG344 Congenital Anomaly of the Inferior Vena Cava 13
1802 CNG587 Congenital Limb Malformation 13
1803 CNG235 Congenital Microgastria 13
1804 8P1001 8p11.2 Deletion Syndrome 13
1805 DST038 Distal Monosomy 7q36 13
1806 LBR027 Laubry-Pezzi Syndrome 13
1807 SCL050 Scoliosis, Arachnodactyly, and Blindness 13
1808 P FRS017 Fraser-Like Syndrome 13
1809 VNB001 Van Benthem-Driessen-Hanveld Syndrome 13
1810 LTR017 Lateral Facial Cleft 13
1811 11Q001 11q22.2q22.3 Microdeletion Syndrome 12
1812 49X004 49,xyyyy Syndrome 12
1813 PLT010 Pili Torti Onychodysplasia 12
1814 TRN045 True Unicornuate Uterus 12
1815 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 12
1816 c ORF006 Orofaciodigital Syndrome 13 12
1817 XP2002 Xp22.13p22.2 Duplication Syndrome 12
1818 GLS016 Glossopalatine Ankylosis 12
1819 PRM319 Primary Bone Dysplasia 12
1820 ISL111 Isolated Arrhinia 12
1821 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 12
1822 CNG335 Congenital Ectropion Uveae 12
1823 c CNG343 Congenital Coronary Artery Aneurysm 12
1824 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1825 LPM011 Lip, Median Nodule of Upper 12
1826 DVR007 Diverticulosis of Bowel, Hernia, and Retinal Detachment 12
1827 APR008 Aprosencephaly and Cerebellar Dysgenesis 12
1828 CTR151 Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome 12
1829 DNC006 Diencephalic-Mesencephalic Junction Dysplasia 12
1830 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 12
1831 NND003 Non-Distal Trisomy 10q 12
1832 c RRC022 Rare Chromosomal Anomaly 12
1833 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 12
1834 THR083 Third Branchial Cleft Anomaly 12
1835 CLF040 Cleft Lip-Retinopathy Syndrome 11
1836 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 11
1837 CNG357 Congenital Symblepharon 11
1838 10Q002 10q22.3q23.3 Microduplication Syndrome 11
1839 DPL010 Duplication of the Esophagus 11
1840 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 11
1841 SPS188 Spastic Paraplegia-Paget Disease of Bone Syndrome 11
1842 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 11
1843 c TRS033 Trisomy 18-Like Syndrome 11
1844 PRT186 Partial Duplication of the Long Arm of Chromosome X 11
1845 OST142 Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome 11
1846 MDL028 Midline Cerebral Malformation 11
1847 DST055 Distal 22q11.2 Microduplication Syndrome 11
1848 CRV060 Cervical Dermoid Cyst 11
1849 c CNG455 Congenital Aortopulmonary Window 11
1850 c CHR161 Chiari Malformation Type 3 11
1851 PRS112 Persistent Eustachian Valve 11
1852 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 11
1853 DST052 Distal 7q11.23 Microduplication Syndrome 11
1854 c PRM246 Primary Tethered Cord Syndrome 11
1855 MCR186 Microtriplication 11q24.1 10
1856 c RRD018 Rare Disease with Pierre Robin Syndrome 10
1857 ERL036 Early-Onset Posterior Subcapsular Cataract 10
1858 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 10
1859 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 10
1860 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 10
1861 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 10
1862 PRT165 Partial Deletion of the Short Arm of Chromosome 7 10
1863 ATS453 Autosomal Anomaly 10
1864 PHN013 Phenobarbital Antenatal Exposure 10
1865 46X015 46,xy Ovotesticular Disorder of Sex Development 10
1866 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 10
1867 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 10
1868 ERL027 Early-Onset Non-Syndromic Cataract 10
1869 MSC088 Mosaic Trisomy 5 10
1870 LRY034 Laryngotracheal Angioma 10
1871 PRT144 Partial Deletion of Chromosome 2 10
1872 NND005 Non-Distal Trisomy 13q 10
1873 PRT160 Partial Deletion of the Short Arm of Chromosome 4 10
1874 INV014 Inverse Klippel-Trenaunay Syndrome 10
1875 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 10
1876 RNL107 Renal Dysplasia, Bilateral 10
1877 4P1001 4p16.3 Microduplication Syndrome 10
1878 c FML317 Familial Monosomy 7 Syndrome 10
1879 NND004 Non-Distal Monosomy 10q 10
1880 DST079 Distal Trisomy 5q 10
1881 DST089 Distal Trisomy 3p 10
1882 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 10
1883 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 10
1884 PRC042 Parachute Tricuspid Valve 10
1885 CRN207 Coronary Sinus Stenosis 10
1886 PRC041 Pericardial and Diaphragmatic Defect 10
1887 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 10
1888 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 10
1889 PRT204 Partial Duplication of the Long Arm of Chromosome 4 10
1890 CNT102 Contractures-Developmental Delay-Pierre Robin Syndrome 10
1891 SYN143 Syndromic Telecanthus 10
1892 c AML063 Amelogenesis Imperfecta Type 2a1 10
1893 SYN148 Syndromic Aniridia 10
1894 PRT215 Partial Duplication of the Short Arm of Chromosome 2 10
1895 c RRR004 Rare Arteriovenous Malformation 10
1896 ANG057 Angioosteohypotrophic Syndrome 10
1897 DST085 Distal Trisomy 2q 10
1898 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 9
1899 PRT106 Partial Duplication of the Short Arm of Chromosome X 9
1900 c PTL011 Patella, Familial Recurrent Dislocation of 9
1901 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 9
1902 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 9
1903 RRV006 Rare Venous Malformation 9
1904 DST071 Distal Monosomy 19p13.3 9
1905 PRT219 Partial Duplication of the Short Arm of Chromosome 6 9
1906 DST076 Distal Trisomy 13q 9
1907 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 9
1908 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 9
1909 XLN204 X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome 9
1910 INV017 Inverse Marcus-Gunn Phenomenon 9
1911 OST144 Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 9
1912 c CNG398 Congenital Pulmonary Airway Malformation Type 1 9
1913 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
1914 PRT162 Partial Deletion of the Short Arm of Chromosome 6 9
1915 PRT202 Partial Duplication of the Long Arm of Chromosome 6 9
1916 c MCR185 Macrodactyly of Toes 9
1917 c CNG249 Congenital Pulmonary Venous Return Anomaly 9
1918 c SCN085 Secondary Ectropion 9
1919 DST078 Distal Trisomy 6q 9
1920 DVL026 Developmental Defect of the Eye 9
1921 ECT107 Ectasia of the Left Atrial Appendage 9
1922 c CNG251 Congenital Pericardium Anomaly 9
1923 9Q3002 9q33.3q34.11 Microdeletion Syndrome 9
1924 ESP045 Esophageal Malformation 9
1925 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 9
1926 P PRT196 Partial Trisomy of the Long Arm of Chromosome 16 9
1927 TBF001 Tibio-Fibular Synostosis 9
1928 ACC010 Accessory Tricuspid Valve Tissue 9
1929 DYS044 Dysmorphism Cleft Palate Loose Skin 9
1930 CNT077 Central Bilateral Macrogyria 9
1931 PRT241 Partial Deletion of the Long Arm of Chromosome 20 9
1932 DST057 Distal Trisomy 19q 9
1933 RNL106 Renal Dysplasia, Unilateral 9
1934 OST146 Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome 9
1935 P PRM337 Primary Osteolysis 8
1936 FRN052 Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome 8
1937 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
1938 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 8
1939 DST090 Distal Trisomy 2p 8
1940 TRS020 Tarsal Kink Syndrome 8
1941 P PRT183 Partial Monosomy of the Long Arm of Chromosome 10 8
1942 PRT230 Partial Duplication of Chromosome 3 8
1943 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 8
1944 PRT199 Partial Duplication of the Long Arm of Chromosome 13 8
1945 ERL042 Early-Onset Partial Cataract 8
1946 OTM002 Otomandibular Dysplasia 8
1947 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 8
1948 PRT171 Partial Deletion of the Short Arm of Chromosome 18 8
1949 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 8
1950 c PTR019 Paternal Uniparental Disomy of Chromosome 5 8
1951 ISL028 Isolated Cerebellar Vermis Hypoplasia 8
1952 PRT152 Partial Deletion of Chromosome 10 8
1953 PRT207 Partial Duplication of the Short Arm of Chromosome 7 8
1954 ISL108 Isolated Splenogonadal Fusion 8
1955 SYN127 Syndromic Ectopia Lentis 8
1956 RRC028 Rare Congenital Non-Syndromic Heart Malformation 8
1957 DST087 Distal Trisomy 7p 8
1958 PRT159 Partial Deletion of the Short Arm of Chromosome 1 8
1959 CRN208 Coronary Sinus Atresia 8
1960 PRT234 Partial Duplication of Chromosome 7 8
1961 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 8
1962 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 8
1963 INT355 Intercalary Limb Defects 7
1964 3Q2004 3q26 Microduplication Syndrome 7
1965 PLY086 Polyrrhinia 7
1966 PRT151 Partial Deletion of Chromosome 16 7
1967 PRT222 Partial Duplication of Chromosome 8 7
1968 SYN147 Syndromic Ankyloblepharon Filiforme Adnatum 7
1969 PRT181 Partial Deletion of the Long Arm of Chromosome 8 7
1970 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1971 c PRT190 Partial Trisomy of the Long Arm of Chromosome 18 7
1972 c ISC013 Isochromosomy Yq 7
1973 P RRC010 Rare Capillary Malformation 7
1974 P PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
1975 PRT177 Partial Deletion of the Long Arm of Chromosome 4 7
1976 c PRT173 Partial Monosomy of the Short Arm of Chromosome 20 7
1977 RNN007 Reunion Island Larsen-Like Syndrome 7
1978 PHK009 Phakomatosis Cesiomarmorata 7
1979 c MTR079 Maternal Uniparental Disomy of Chromosome 13 7
1980 PRN015 Perinatal Intestinal Perforation 7
1981 PRT193 Partial Duplication of the Long Arm of Chromosome 11 7
1982 c CHR162 Chiari Malformation Type 4 6
1983 CMM016 Commissural Lip Fistula 6
1984 PRT242 Partial Deletion of the Long Arm of Chromosome 21 6
1985 DST058 Distal Monosomy 12p 6
1986 DST074 Distal Trisomy 20q 6
1987 DST075 Distal Trisomy 16q 6
1988 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1989 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1990 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1991 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1992 XLN221 X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome 6
1993 NNS047 Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration 6
1994 7Q3001 7q31 Microdeletion Syndrome 6
1995 PRT148 Partial Deletion of Chromosome 6 6
1996 DST054 Distal 17p13.3 Microdeletion Syndrome 6
1997 ATY043 Atypical Norrie Disease Due to Xp11.3 Microdeletion 6
1998 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 6
1999 IDP088 Idiopathic Isolated Micropenis 6
2000 TBL020 Tubular Duplication of the Esophagus 6
2001 NSN002 Nose and Cavum Anomaly 6
2002 c ANG058 Angelman Syndrome Due to a Point Mutation 6
2003 c RRD061 Rare Disorder with Ptosis 6
2004 PRT147 Partial Deletion of Chromosome 9 6
2005 PRT211 Partial Duplication of the Short Arm of Chromosome 11 6
2006 12Q001 12q15q21.1 Microdeletion Syndrome 6
2007 EXT047 Extralobar Congenital Pulmonary Sequestration 6
2008 PRT098 Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome 6
2009 GST110 Gastroduodenal Malformation 6
2010 TRC084 Tricuspid Valve Agenesis 6
2011 DST066 Distal Monosomy 20q 6
2012 DST073 Distal Monosomy 7p 6
2013 DST083 Distal Trisomy 9q 6
2014 LNS008 Lens Position Anomaly 6
2015 SYN155 Syndromic Anorectal Malformation 6
2016 c YCH004 Y Chromosomal Anomaly 5
2017 MDN007 Median Cleft Lip/mandibule 5
2018 PRT155 Partial Deletion of Chromosome 17 5
2019 PRM320 Primary Bone Dysplasia with Micromelia 5
2020 FBL015 Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 5
2021 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 5
2022 LSS032 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome 5
2023 DRG019 Drug-Related Renal Tubular Dysgenesis 5
2024 PRM332 Primary Bone Dysplasia with Defective Bone Mineralization 5
2025 PRM333 Primary Bone Dysplasia with Decreased Bone Density 5
2026 NNT057 Neonatal Osteosclerotic Dysplasia 5
2027 PRM335 Primary Bone Dysplasia with Multiple Joint Dislocations 5
2028 PRM336 Primary Bone Dysplasia with Disorganized Development of Skeletal Components 5
2029 SLN010 Slender Bone Dysplasia 5
2030 CNG601 Congenital Tricuspid Malformation 5
2031 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
2032 PRT191 Partial Duplication of the Long Arm of Chromosome 17 5
2033 c PRT194 Partial Trisomy of the Long Arm of Chromosome 9 5
2034 PRT198 Partial Duplication of the Long Arm of Chromosome 14 5
2035 PRT227 Partial Deletion of the Long Arm of Chromosome 22 5
2036 PRT240 Partial Deletion of the Long Arm of Chromosome 19 5
2037 SPN269 Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type 5
2038 CNG571 Congenital Disorder of Glycosylation-Related Bone Disorder 5
2039 ISL117 Isolated Congenital Radial Head Dislocation 5
2040 CNG583 Congenital Urachal Anomaly 5
2041 STR107 Sterol Biosynthesis Disorder 5
2042 DST070 Distal Monosomy 4q 5
2043 UNV004 Univentricular Heart with Single Atrio-Ventricular Valve 5
2044 CNG353 Congenital Partial Agenesis of Pericardium 5
2045 CNG354 Congenital Complete Agenesis of Pericardium 5
2046 SYN144 Syndromic Outer Canthal Malposition 5
2047 SYN145 Syndromic Epicanthus 5
2048 CRN313 Corneodysgenesis 5
2049 SYN097 Syndromic Urogenital Tract Malformation 5
2050 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
2051 c LSS022 Lissencephaly with Cerebellar Hypoplasia Type D 5
2052 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 5
2053 ISL106 Isolated Congenital Microcephaly 5
2054 PRP094 Propylthiouracil Embryofetopathy 5
2055 SYN160 Syndromic Intestinal Malformation 5
2056 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
2057 LWS004 Low Isolated Anorectal Malformation 4
2058 c TSS003 Tessier Number 6 Facial Cleft 4
2059 PRT201 Partial Duplication of the Long Arm of Chromosome 3 4
2060 MXD034 Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations 4
2061 2P1003 2p13.2 Microdeletion Syndrome 4
2062 CNG577 Congenital Deformities of Limbs 4
2063 PRT245 Partial Deletion of Chromosome 12 4
2064 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 4
2065 MCR188 Macrodactyly of Fingers, Unilateral 4
2066 MCR190 Macrodactyly of Toes, Unilateral 4
2067 CDL007 Caudal Regression-Sirenomelia Spectrum 4
2068 ARX004 Arx-Related Encephalopathy-Brain Malformation Spectrum 4
2069 4Q2002 4q25 Proximal Deletion Syndrome 4
2070 LRP007 Lrp5-Related Primary Osteoporosis 4
2071 RRC020 Rare Congenital Anomaly of Ventricular Septum 4
2072 RSP024 Respiratory or Mediastinal Malformation 4
2073 SYN141 Syndromic Renal or Urinary Tract Malformation 4
2074 RRP026 Rare Palpebral Disorder 4
2075 RRT022 Rare Atrial Defect and Interatrial Communication 4
2076 MLT174 Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome 4
2077 MLT175 Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability 4
2078 c TTL014 Total Autosomal Monosomy 4
2079 c RRD045 Rare Disorder with Ectropion 4
2080 c BLT012 Bilateral Renal Agenesis Dominant Type 4
2081 PRR038 Pierre Robin Syndrome Associated with Bone Disease 4
2082 PNN004 Pinnae Fistula or Cyst 4
2083 CNG391 Congenital Pseudoarthrosis of the Limbs 4
2084 PRT210 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 4
2085 PRT224 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 4
2086 MRF016 Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome 4
2087 PRT247 Partial Duplication of the Short Arm of Chromosome 19 4
2088 c RRD027 Rare Disease with Malignant Hyperthermia 4
2089 ISL130 Isolated Congenital Entropion 4
2090 STR109 Structural Developmental Eye Defect 4
2091 XLN155 X-Linked Intellectual Disability, Sutherland-Haan Type 4
2092 LNS009 Lens Size Anomaly 4
2093 CNG598 Congenital Malformation of the Eye with Glaucoma As a Major Feature 4
2094 c XND001 X and Y Chromosomal Anomaly 4
2095 c RRD046 Rare Disorder with Entropion 4
2096 HYP506 Hypoplasia of the Mitral Valve Annulus 4
2097 HGH040 High Isolated Anorectal Malformation 4
2098 ISL107 Isolated Congenital Syngnathia 4
2099 c XCH002 X Chromosome Number Anomaly 4
2100 MLF006 Malformation of the Neurenteric Canal, Spinal Cord and Column 4
2101 PRT243 Partial Duplication of the Short Arm of Chromosome 1 4
2102 CNG576 Congenital Deformities of Fingers 4
2103 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 4
2104 CNG315 Congenital Vertical Talus, Unilateral 4
2105 MCR187 Macrodactyly of Fingers, Bilateral 4
2106 MCR189 Macrodactyly of Toes, Bilateral 4
2107 LTH049 Lethal Multiple Congenital Anomalies/dysmorphic Syndrome 4
2108 OVR126 Overgrowth or Tall Stature Syndrome with Skeletal Involvement 4
2109 GNT161 Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy 4
2110 RNF001 Rnf13-Related Severe Early-Onset Epileptic Encephalopathy 4
2111 DPH030 Diaphragmatic or Abdominal Wall Malformation 4
2112 NNS058 Non-Syndromic Renal or Urinary Tract Malformation 4
2113 ENC035 Encircling Double Aortic Arch 4
2114 SYN157 Syndromic Respiratory or Mediastinal Malformation 4
2115 NNS064 Non-Syndromic Central Nervous System Malformation 4
2116 c SYN028 Syngnathia Multiple Anomalies 3
2117 SYN102 Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature 3
2118 MTR085