Fetal Diseases Category (5613 diseases)


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

# Family MCID Name MIFTS
1 FTL028 Fetal Retinoid Syndrome 25
2 P PRG092 Pregnancy Loss, Recurrent 1 45
3 CHL179 Childhood Cns Embryonal Cell Carcinoma 8
4 TWN001 Twin-to-Twin Transfusion Syndrome 39
5 P PRM252 Preimplantation Embryonic Lethality 1 26
6 CHL043 Childhood Embryonal Testis Carcinoma 8
7 c FTL070 Fetal Akinesia Deformation Sequence 2 38
8 c FTL072 Fetal Akinesia Deformation Sequence 4 36
9 c FTL071 Fetal Akinesia Deformation Sequence 3 31
10 P FTL001 Fetal Alcohol Syndrome 57
11 c FTL006 Fetal Alcohol Spectrum Disorder 42
12 c RHB023 Rhabdomyosarcoma, Embryonal, 1 40
13 c ADL007 Adult Central Nervous System Embryonal Carcinoma 7
14 FTL004 Fetal Erythroblastosis 36
15 FTL066 Fetal Akinesia Syndrome, X-Linked 14
16 FTL011 Fetal Aminopterin Syndrome 12
17 P EMB005 Embryonal Rhabdomyosarcoma 60
18 NCH001 Nuchal Bleb, Familial 31
19 ORB002 Orbit Embryonal Rhabdomyosarcoma 30
20 c RHB021 Rhabdomyosarcoma, Embryonal, 2 25
21 INT041 Intratubular Embryonal Carcinoma 25
22 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 24
23 c PRM251 Preimplantation Embryonic Lethality 2 18
24 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
25 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
26 GCH018 Gaucher Disease, Perinatal Lethal 50
27 c PNT049 Pontocerebellar Hypoplasia, Type 2d 50
28 c PNT037 Pontocerebellar Hypoplasia, Type 3 49
29 c PNT036 Pontocerebellar Hypoplasia, Type 6 48
30 c PNT018 Pontocerebellar Hypoplasia, Type 1b 47
31 P PNT019 Pontocerebellar Hypoplasia 46
32 c PNT043 Pontocerebellar Hypoplasia, Type 4 46
33 c PNT045 Pontocerebellar Hypoplasia, Type 1a 45
34 c PNT044 Pontocerebellar Hypoplasia, Type 2a 44
35 c PNT032 Pontocerebellar Hypoplasia, Type 9 44
36 c PNT051 Pontocerebellar Hypoplasia, Type 1d 43
37 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
38 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
39 c PNT050 Pontocerebellar Hypoplasia, Type 11 38
40 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
41 c PNT053 Pontocerebellar Hypoplasia, Type 13 35
42 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
43 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
44 c PNT042 Pontocerebellar Hypoplasia, Type 2f 34
45 c CTR102 Cataract 2, Multiple Types 33
46 c PNT059 Pontocerebellar Hypoplasia, Type 16 31
47 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
48 c PNT056 Pontocerebellar Hypoplasia, Type 15 29
49 c PNT047 Pontocerebellar Hypoplasia, Type 2b 28
50 PRS010 Prostate Embryonal Rhabdomyosarcoma 28
51 c PNT055 Pontocerebellar Hypoplasia, Type 14 26
52 MTR016 Maternal Hyperphenylalaninemia 23
53 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
54 c PNT058 Pontocerebellar Hypoplasia, Type 1f 21
55 c PNT060 Pontocerebellar Hypoplasia, Type 17 21
56 CRD031 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification 7
57 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
58 NNC014 Non-Central Nervous System-Localized Embryonal Carcinoma 5
59 FTL076 Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, and Dysmorphic Facies 25
60 P CTR002 Cataract 60
61 BLS003 Blastoma 48
62 c CTR103 Cataract 4, Multiple Types 47
63 c CTR096 Cataract 6, Multiple Types 44
64 c CTR118 Cataract 14, Multiple Types 40
65 c CTR115 Cataract 16, Multiple Types 39
66 c CTR170 Cataract 30, Multiple Types 39
67 c CTR174 Cataract 40 38
68 c CTR113 Cataract 11, Multiple Types 38
69 c CTR145 Cataract 44 37
70 c CTR129 Cataract 31, Multiple Types 36
71 c CTR181 Cataract 18 35
72 c CTR122 Cataract 5, Multiple Types 34
73 c CTR183 Cataract 38 34
74 ALC036 Alcohol-Related Birth Defects 34
75 c CTR095 Cataract 8, Multiple Types 34
76 c CTR131 Cataract 17, Multiple Types 32
77 c CTR187 Cataract 48 32
78 c CTR111 Cataract 36 32
79 c CTR185 Cataract 30 32
80 c CTR175 Cataract 24 30
81 c CTR119 Cataract 32, Multiple Types 30
82 c CTR141 Cataract 21, Multiple Types 29
83 c CTR180 Cataract 22, Multiple Types 27
84 c CTR166 Cataract 33, Multiple Types 26
85 c CTR121 Cataract 25 26
86 c CTR097 Cataract 34, Multiple Types 26
87 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 25
88 PRT001 Partial Fetal Alcohol Syndrome 24
89 c CTR169 Cataract 29 24
90 c CTR165 Cataract 19, Multiple Types 24
91 c CTR162 Cataract 47 23
92 c CTR157 Cataract 28 23
93 CCN012 Cocaine Antenatal Exposure 23
94 c CTR158 Cataract 37 23
95 c CTR184 Cataract 39, Multiple Types 22
96 c CTR106 Cataract 20, Multiple Types 22
97 c CTR110 Cataract 26, Multiple Types 22
98 c CTR160 Cataract 45 21
99 c CTR144 Cataract 43 21
100 c CTR178 Cataract 27 21
101 c CTR128 Cataract 33 20
102 c CTR159 Cataract 35 20
103 HRD180 Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome 20
104 c CTR139 Cataract 42 20
105 c CTR190 Cataract 49 18
106 CHL183 Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 8
107 CHL185 Childhood Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 8
108 c CTR008 Cataract Congenital Autosomal Dominant 5
109 CHL161 Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 5
110 FTL077 Fetal Akinesia Deformation Sequence Syndrome X-Linked 4
111 c CNG411 Congenital Disorder of Glycosylation, Type in 67
112 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
113 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
114 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
115 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
116 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
117 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
118 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
119 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
120 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
121 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
122 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
123 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
124 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
125 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
126 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
127 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
128 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
129 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
130 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
131 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
132 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
133 c CNG379 Congenital Disorder of Glycosylation, Type It 42
134 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
135 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
136 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
137 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
138 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
139 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
140 FTL021 Fetal Macrosomia 39
141 c CTR132 Cataract 3, Multiple Types 39
142 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
143 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
144 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
145 c CNG188 Congenital Disorder of Glycosylation, Type if 35
146 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
147 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
148 P ART169 Arthrogryposis Multiplex Congenita 6 31
149 PLY036 Polyembryoma 28
150 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
151 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
152 c ART167 Arthrogryposis Multiplex Congenita 5 27
153 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
154 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
155 PRV001 Parovarian Cyst 25
156 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
157 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
158 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
159 FTL005 Fetal Adenoma 21
160 SLC041 Selective Intrauterine Growth Restriction 19
161 MCR070 Microcornea, Glaucoma, and Absent Frontal Sinuses 19
162 c ART171 Arthrogryposis Multiplex Congenita-3 14
163 c ART170 Arthrogryposis Multiplex Congenita-1 13
164 c RR2001 Ror2-Related Robinow Syndrome 13
165 c ADL102 Adult Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 13
166 NNT022 Neonatal Ovarian Cyst 12
167 c ART172 Arthrogryposis Multiplex Congenita-4 12
168 c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 10
169 HYD069 Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism 10
170 c CNG628 Congenital Disorder of Glycosylation Iw 9
171 THY113 Thymic Aplasia with Fetal Death 8
172 P DSR041 Disorder of Multiple Glycosylation 6
173 MXD015 Mixed Type Rhabdomyosarcoma 6
174 FTL020 Fetal Left Ventricular Aneurysm 4
175 SMT021 Somatomedin, Embryonic 4
176 FTL063 Fetal Nicotine Spectrum Disorder 3
177 CHL153 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified 3
178 FTL017 Fetal Enterovirus Syndrome 2
179 FTL025 Fetal Parainfluenza Virus Type 3 Syndrome 1
180 FTL027 Fetal Phenothiazine Syndrome 1
181 P HRT032 Heart Disease 80
182 BSL036 Basal Cell Nevus Syndrome 74
183 c MCP052 Mucopolysaccharidosis, Type Vi 70
184 P RTH006 Rothmund-Thomson Syndrome, Type 2 69
185 P MCK013 Meckel Syndrome, Type 1 67
186 CHR103 Charge Syndrome 66
187 RBR002 Roberts-Sc Phocomelia Syndrome 66
188 HJD001 Hajdu-Cheney Syndrome 64
189 P BTH005 Bethlem Myopathy 1 64
190 P PRD006 Prader-Willi Syndrome 62
191 STR039 Sturge-Weber Syndrome 62
192 WLK001 Walker-Warburg Syndrome 61
193 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 61
194 MRS002 Marshall Syndrome 61
195 P CRN323 Cranioectodermal Dysplasia 60
196 P CMR001 Camurati-Engelmann Disease 60
197 c MCR241 Microphthalmia, Syndromic 3 59
198 c CLR131 Ciliary Dyskinesia, Primary, 1 59
199 ACH043 Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans 59
200 P PLY006 Polydactyly 59
201 P VNT002 Ventricular Septal Defect 58
202 P ATR010 Atrial Heart Septal Defect 58
203 P CTS001 Cutis Laxa 57
204 P SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 57
205 CLF004 Cleft Lip/palate 57
206 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 57
207 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 56
208 3MC003 3mc Syndrome 56
209 BRN003 Branchiooculofacial Syndrome 55
210 c BRC078 Brachydactyly, Type A1 54
211 TRC062 Tricuspid Atresia 54
212 c RHZ011 Rhizomelic Chondrodysplasia Punctata, Type 1 54
213 MSC077 Muscle Eye Brain Disease 54
214 P KLN006 Koolen-De Vries Syndrome 54
215 BWN001 Bowen-Conradi Syndrome 53
216 LPD016 Lipoid Proteinosis of Urbach and Wiethe 52
217 P TBH003 Teebi Hypertelorism Syndrome 1 52
218 RPD005 Rapidly Involuting Congenital Hemangioma 52
219 P VND002 Van Der Woude Syndrome 52
220 c MCR263 Microphthalmia, Syndromic 1 51
221 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 51
222 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
223 THR009 Thrombocytopenia-Absent Radius Syndrome 51
224 KFM001 Kaufman Oculocerebrofacial Syndrome 50
225 c WRD020 Waardenburg Syndrome, Type 4a 50
226 CHR005 Chorioamnionitis 50
227 MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 50
228 DND001 Dandy-Walker Syndrome 50
229 c TRN032 Transient Neonatal Diabetes Mellitus 50
230 OLG003 Oligohydramnios 50
231 c CRN108 Cranioectodermal Dysplasia 1 49
232 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 49
233 MRG013 Mirage Syndrome 49
234 c WRD032 Waardenburg Syndrome, Type 2a 49
235 DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 49
236 c DFN036 Deafness, X-Linked 2 48
237 JCB001 Jacobsen Syndrome 48
238 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 48
239 c MCK032 Meckel Syndrome, Type 3 47
240 FLP001 Filippi Syndrome 47
241 c MCK033 Meckel Syndrome, Type 4 47
242 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
243 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 47
244 PTC001 Potocki-Shaffer Syndrome 47
245 c MCK031 Meckel Syndrome, Type 2 47
246 c WRD024 Waardenburg Syndrome, Type 4c 47
247 DSM017 Desmoplastic Nodular Medulloblastoma 47
248 PLY012 Polyhydramnios 47
249 CHR518 Chromosome 9p Deletion Syndrome 46
250 MCR173 Microform Holoprosencephaly 46
251 c XFP001 Xfe Progeroid Syndrome 46
252 P CRC039 Coarctation of Aorta 46
253 c MCK014 Meckel Syndrome, Type 5 46
254 P PLY148 Polydactyly, Preaxial Ii 45
255 CDG001 Cdags Syndrome 45
256 c MCK012 Meckel Syndrome, Type 6 45
257 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 45
258 c OST136 Osteopetrosis, Autosomal Recessive 7 45
259 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
260 c CRN111 Cranioectodermal Dysplasia 4 45
261 PLC008 Placenta Disease 45
262 TTR011 Tetraploidy 45
263 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 45
264 P SYN075 Syngnathia 45
265 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
266 ELS006 Elsahy-Waters Syndrome 44
267 CLF056 Cleft Lip with or Without Cleft Palate 44
268 PLC001 Placenta Accreta 44
269 c OST134 Osteopetrosis, Autosomal Recessive 6 44
270 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
271 P PRD037 Periodontal Ehlers-Danlos Syndrome 44
272 KGM001 Kagami-Ogata Syndrome 43
273 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
274 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 43
275 c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 43
276 SBV001 Subvalvular Aortic Stenosis 43
277 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 43
278 c MCR212 Microphthalmia, Syndromic 12 42
279 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
280 c MCP051 Mucopolysaccharidosis, Type Ix 42
281 CHR382 Chromosome 18q Deletion Syndrome 42
282 c CLR134 Ciliary Dyskinesia, Primary, 3 42
283 c CNG404 Congenital Heart Defects, Multiple Types, 4 41
284 c PRM032 Primary Congenital Glaucoma 41
285 KTL001 Keutel Syndrome 40
286 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 40
287 c EHL071 Ehlers-Danlos Syndrome, Periodontal Type, 1 40
288 PLC009 Placenta Praevia 40
289 MBD001 Mbd5 Haploinsufficiency 40
290 TRP014 Triploidy 39
291 P MTP001 Metaphyseal Dysplasia 39
292 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 39
293 c VND007 Van Der Woude Syndrome 1 39
294 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
295 P SYN012 Synpolydactyly 38
296 FCL047 Facial Clefting, Oblique, 1 38
297 c CRN109 Cranioectodermal Dysplasia 2 38
298 P PRS124 Presynaptic Congenital Myasthenic Syndromes 38
299 c MCK034 Meckel Syndrome, Type 8 38
300 PLL008 Pallister-Killian Syndrome 38
301 CHR589 Chromosome 17p13.3, Centromeric, Duplication Syndrome 38
302 DSN002 Desanto-Shinawi Syndrome 38
303 c GLC083 Glaucoma 3, Primary Infantile, B 38
304 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 37
305 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 37
306 c BTH006 Bethlem Myopathy 2 37
307 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 37
308 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 37
309 CHR377 Chromosome 10q26 Deletion Syndrome 36
310 c WRD019 Waardenburg Syndrome, Type 4b 36
311 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 36
312 EMN001 Emanuel Syndrome 36
313 P MXD016 Mixed Gonadal Dysgenesis 35
314 c WRD022 Waardenburg Syndrome, Type 2d 35
315 FCL090 Facial Cleft 35
316 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
317 c EHL072 Ehlers-Danlos Syndrome, Periodontal Type, 2 34
318 c WRD029 Waardenburg Syndrome, Type 2b 34
319 49X010 49,xxxxx Syndrome 34
320 P SYN165 Syndromic Microphthalmia 34
321 SPN189 Spondyloepiphyseal Dysplasia, Kimberley Type 34
322 P CHR200 Chromosome 16 Trisomy 33
323 c VNT028 Ventricular Septal Defect 1 33
324 CHR379 Chromosome 15q26-Qter Deletion Syndrome 33
325 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 33
326 SPN012 Spindle Cell Hemangioma 33
327 CRR017 Curry-Jones Syndrome 32
328 RVL002 Ruvalcaba Syndrome 32
329 CHN075 Chondrodysplasia Punctata, Brachytelephalangic, Autosomal 32
330 c PK3005 Pik3ca-Related Overgrowth Syndrome 32
331 c RNG018 Ring Chromosome 22 32
332 CLF049 Cleft Lip and Alveolus 32
333 c HYD040 Hydrolethalus Syndrome 2 32
334 SGR001 Sugarman Brachydactyly 31
335 c RNG017 Ring Chromosome 21 31
336 ACR017 Acrofacial Dysostosis 31
337 HLZ001 Holzgreve Syndrome 31
338 CHR390 Chromosome 14q11-Q22 Deletion Syndrome 30
339 CLR127 Ciliary Dyskinesia, Primary, 36, X-Linked 30
340 c MNS014 Monosomy 22 30
341 CHR270 Chromosome 9p Duplication 30
342 c RNG004 Ring Chromosome 1 30
343 RGH010 Right Ventricular Hypoplasia, Isolated 30
344 c MCR392 Microphthalmia, Syndromic 16 30
345 ATY016 Atypical Werner Syndrome 30
346 CHR229 Chromosome 20p Duplication 30
347 FRS007 Frias Syndrome 30
348 MCR302 Macrostomia, Isolated 30
349 PSD046 Pseudotrisomy 13 Syndrome 29
350 PRT048 Partial Atrioventricular Canal 29
351 c FRN032 Frontonasal Dysplasia 3 29
352 RGH006 Right Aortic Arch 29
353 c WRD026 Waardenburg Syndrome, Type 2c 29
354 CHR209 Chromosome 17p Duplication 29
355 ISL096 Isolated Klippel-Feil Syndrome 29
356 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
357 SPN133 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations 29
358 HMF010 Hemifacial Microsomia with Radial Defects 29
359 NSP016 Nasopalpebral Lipoma-Coloboma Syndrome 29
360 CHR707 Chromosome 13q33-Q34 Deletion Syndrome 28
361 UNV002 Univentricular Heart 28
362 CHR190 Chromosome 12p Duplication 28
363 CHR266 Chromosome 8p23.1 Deletion 28
364 NBL001 Nablus Mask-Like Facial Syndrome 28
365 MSC016 Mosaic Trisomy 14 28
366 c MCK035 Meckel Syndrome, Type 10 28
367 CBB002 Cobb Syndrome 28
368 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 28
369 16Q001 16q24.3 Microdeletion Syndrome 28
370 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 28
371 c MCK020 Meckel Syndrome, Type 11 27
372 NNS135 Non-Syndromic Sagittal Craniosynostosis 27
373 FNT003 Fountain Syndrome 27
374 c CRN110 Cranioectodermal Dysplasia 3 27
375 c SHR129 Short-Rib Thoracic Dysplasia 21 Without Polydactyly 27
376 HLP031 Holoprosencephaly 12 with or Without Pancreatic Agenesis 27
377 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 27
378 c MCK028 Meckel Syndrome 13 27
379 c ATR093 Atrial Heart Septal Defect 7 27
380 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 27
381 c CNG511 Congenital Heart Defects, Multiple Types, 2 26
382 DGR006 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 26
383 P SPN236 Spina Bifida Cystica 26
384 NNN007 Non-Involuting Congenital Hemangioma 26
385 OCL030 Oculoauriculofrontonasal Syndrome 26
386 c CTR105 Cataract 12, Multiple Types 26
387 STN006 Steinfeld Syndrome 26
388 ULN023 Ulnar Hypoplasia 26
389 PRT091 Partial Cryptophthalmia 26
390 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
391 P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 25
392 c VND004 Van Der Woude Syndrome 2 25
393 c CNG521 Congenital Heart Defects, Multiple Types, 5 25
394 P PRG139 Progeroid Syndrome 25
395 SPN361 Spondylometaphyseal Dysplasia, Algerian Type 25
396 c MYS084 Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive 25
397 c KLF002 Kleefstra Syndrome Due to a Point Mutation 25
398 NNT005 Neonatal Candidiasis 25
399 MLL022 Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly 25
400 CRT028 Cor Triatriatum 25
401 PRP090 Peripheral Dysostosis 24
402 RDS004 Rud Syndrome 24
403 DPR014 Diprosopus 24
404 c GLC054 Glaucoma 3, Primary Congenital, D 24
405 OST151 Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 24
406 MMM002 Mammary-Digital-Nail Syndrome 24
407 ACL002 Acalvaria 24
408 c TBH004 Teebi Hypertelorism Syndrome 2 24
409 OCL070 Oculopalatocerebral Syndrome 24
410 c MCK037 Meckel Syndrome 14 24
411 5Q3002 5q31.3 Microdeletion Syndrome 24
412 CNG506 Congenital Amyoplasia 24
413 c CNG616 Congenital Heart Defects, Multiple Types, 7 24
414 DST037 Distal Monosomy 9p 23
415 HYP212 Hypomandibular Faciocranial Dysostosis 23
416 DND013 Dandy-Walker Malformation with Postaxial Polydactyly 23
417 c MCR217 Microphthalmia, Syndromic 11 23
418 c CMR006 Camurati-Engelmann Disease, Type 2 23
419 c MCK036 Meckel Syndrome, Type 9 23
420 ORB019 Orbital Margin, Hypoplasia of 23
421 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 23
422 c HYD041 Hydatidiform Mole, Recurrent, 2 23
423 6QT002 6q Terminal Deletion Syndrome 23
424 CNG357 Congenital Symblepharon 23
425 MSC089 Mosaic Monosomy X 22
426 HMH003 Hemihyperplasia-Multiple Lipomatosis Syndrome 22
427 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
428 TRT015 Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia 22
429 OCL083 Oculogastrointestinal Neurodevelopmental Syndrome 22
430 PLY133 Polysyndactyly with Cardiac Malformation 22
431 2Q3005 2q31.1 Microdeletion Syndrome 22
432 INF021 Infant Gynecomastia 22
433 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 22
434 c GLC089 Glaucoma 3, Primary Congenital, E 22
435 ATR018 Atrial Septal Defect Ostium Primum 21
436 ERM001 Ermine Phenotype 21
437 HYD053 Hydrocephalus with Associated Malformations 21
438 SPN117 Spinocerebellar Degeneration and Corneal Dystrophy 21
439 CRN224 Craniofaciofrontodigital Syndrome 21
440 MLT173 Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 21
441 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 21
442 LBR027 Laubry-Pezzi Syndrome 21
443 FBL018 Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities 21
444 MSC017 Mosaic Trisomy 22 21
445 MSC019 Mosaic Trisomy 7 21
446 CHR159 Charlie M Syndrome 20
447 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 20
448 SPN353 Spondylometaphyseal Dysplasia, X-Linked 20
449 DYR002 Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion 20
450 c OCY005 Oocyte Maturation Defect 4 20
451 ART056 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 20
452 c WRD034 Waardenburg Syndrome, Type 2f 20
453 ODN020 Odontoma-Dysphagia Syndrome 20
454 ECT085 Ectopia Cordis 20
455 DYS134 Dysspondyloenchondromatosis 20
456 MTR087 Maternal Uniparental Disomy 20
457 c ACQ027 Acquired Cutis Laxa 20
458 DYS135 Dysphagia Lusoria 20
459 TRS011 Trisomy 2 Mosaicism 20
460 THK001 Thakker-Donnai Syndrome 20
461 GNC010 Genochondromatosis 20
462 SBP003 Subependymal Nodular Heterotopia 19
463 c BRC053 Brachyolmia Type 2 19
464 CRN311 Coronary Ostial Stenosis or Atresia 19
465 ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 19
466 PNH003 Pinheiro Freire-Maia Miranda Syndrome 19
467 VNT031 Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence 19
468 c LTB003 Ltbp4-Related Cutis Laxa 19
469 c PST077 Posterior Meningocele 19
470 c GLC032 Glaucoma, Hereditary 19
471 20Q003 20q11.2 Microdeletion Syndrome 19
472 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 19
473 CLF047 Cleft-Limb-Heart Malformation Syndrome 19
474 PLY134 Polydactyly, Postaxial, with Dental and Vertebral Anomalies 19
475 20P002 20p13 Microdeletion Syndrome 19
476 P MTR062 Maternal Uniparental Disomy of Chromosome 4 19
477 MYL044 Myelocystocele 19
478 GMS002 Gms Syndrome 19
479 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
480 BRC094 Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 19
481 CLD006 Cleidorhizomelic Syndrome 19
482 DST038 Distal Monosomy 7q36 18
483 c ANG052 Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 18
484 c MTR051 Maternal Uniparental Disomy of Chromosome 1 18
485 HYP727 Hypoglossia with Situs Inversus 18
486 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
487 MSC079 Mosaic Trisomy 1 18
488 CLF034 Cleft Hard Palate 18
489 CNG347 Congenital Tricuspid Stenosis 18
490 DLT013 Deletion 5q35 18
491 c FBL003 Fbln5-Related Cutis Laxa 18
492 c KLN007 Koolen-De Vries Syndrome Due to a Point Mutation 18
493 RDL028 Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema 18
494 HYD049 Hydrocephalus with Cerebellar Agenesis 18
495 SPN120 Spondylocamptodactyly 18
496 c RNG031 Ring Chromosome Y Syndrome 18
497 CNG586 Congenital Tricuspid Valve Dysplasia 18
498 P CHR180 Chromosome 10, Uniparental Disomy 18
499 CHR188 Chromosome 11q Duplication 18
500 WHT005 White Forelock with Malformations 18
501 c TTL008 Total Spina Bifida Cystica 18
502 CRV064 Cervicothoracic Spina Bifida Aperta 18
503 c BSL030 Basal Encephalocele 18
504 FCL087 Facial Infiltrating Lipomatosis 18
505 9P1001 9p13 Microdeletion Syndrome 17
506 LRS009 Larsen-Like Syndrome, Lethal Type 17
507 PTR034 Paternal Uniparental Disomy 17
508 49X005 49, Xxxyy Syndrome 17
509 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 17
510 c MTR061 Maternal Uniparental Disomy of Chromosome 6 17
511 DST055 Distal 22q11.2 Microduplication Syndrome 17
512 MDL016 Midline Cervical Cleft 17
513 NNS113 Non-Syndromic Posterior Hypospadias 17
514 KMM002 Kommerell Diverticulum 17
515 8Q1001 8q12 Microduplication Syndrome 17
516 ISL118 Isolated Tracheoesophageal Fistula 17
517 5Q3001 5q35 Microduplication Syndrome 17
518 LVC001 Levic Stefanovic Nikolic Syndrome 17
519 MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 16
520 c PTR011 Paternal Uniparental Disomy of Chromosome 1 16
521 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 16
522 INT089 Intellectual Deficit - Short Stature - Hypertelorism 16
523 ADC008 Adactylia, Unilateral 16
524 SHN001 Shone Complex 16
525 DST079 Distal Trisomy 5q 16
526 XP2002 Xp22.13p22.2 Duplication Syndrome 16
527 6Q1002 6q16 Microdeletion Syndrome 16
528 PTS017 Ptosis, Strabismus, and Ectopic Pupils 16
529 SCR022 Sacral Meningocele Conotruncal Heart Defects 16
530 CNS012 Cono-Spondylar Dysplasia 16
531 DBL010 Double-Orifice Mitral Valve 16
532 CRY029 Cryptomicrotia-Brachydactyly Syndrome 16
533 20Q001 20q13.33 Microdeletion Syndrome 16
534 14Q005 14q24.1q24.3 Microdeletion Syndrome 16
535 ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 16
536 NND003 Non-Distal Trisomy 10q 16
537 WHB001 Wahab Syndrome 16
538 PTR014 Paternal 20q13.2q13.3 Microdeletion Syndrome 16
539 MTP021 Metaphyseal Dysplasia, Braun-Tinschert Type 16
540 ERL037 Early-Onset Lamellar Cataract 16
541 NNS096 Non-Syndromic Anorectal Malformation 15
542 EXT038 Extrasystoles Short Stature Hyperpigmentation Microcephaly 15
543 CYS047 Cystic Fibrosis, Modifier of, 1 15
544 NND005 Non-Distal Trisomy 13q 15
545 MCR358 Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom 15
546 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
547 10Q002 10q22.3q23.3 Microduplication Syndrome 15
548 c ISC010 Isochromosome Yp 15
549 c MTR060 Maternal Uniparental Disomy of Chromosome 9 15
550 c ADL101 Adult-Onset Steinert Myotonic Dystrophy 15
551 ISL108 Isolated Splenogonadal Fusion 15
552 RCT033 Rectal Duplication 15
553 LPM011 Lip, Median Nodule of Upper 15
554 DST071 Distal Monosomy 19p13.3 14
555 MCR186 Microtriplication 11q24.1 14
556 IMP019 Imperforate Oropharynx-Costovertebral Anomalies Syndrome 14
557 ISL054 Isolated Congenitally Uncorrected Transposition of the Great Arteries 14
558 c GLC052 Glaucoma 3, Primary Congenital, C 14
559 P ANT062 Anterior Urethral Valve 14
560 SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 14
561 MCR295 Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome 14
562 VRT011 Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis 14
563 MSC088 Mosaic Trisomy 5 14
564 MSC087 Mosaic Trisomy 4 14
565 c ELN002 Eln-Related Cutis Laxa 14
566 ATX036 Ataxia-Photosensitivity-Short Stature Syndrome 14
567 c LTH052 Lethal Recessive Chondrodysplasia 14
568 ANR041 Aniridia-Intellectual Disability Syndrome 13
569 PRT206 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 13
570 c EFM001 Efemp2-Related Cutis Laxa 13
571 URC012 Urachal Sinus 13
572 FRY005 Fryns Smeets Thiry Syndrome 13
573 SPN150 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 13
574 MND008 Mandibular Arteriovenous Malformation 13
575 CRN204 Craniofacial Conodysplasia 13
576 c ORF005 Orofaciodigital Syndrome 12 13
577 CNG235 Congenital Microgastria 13
578 CRN194 Cranial Meningocele 13
579 TRN017 Transient Neonatal Neutropenia 13
580 4P1001 4p16.3 Microduplication Syndrome 13
581 SXC004 Sex Chromosome Disorder of Sex Development 13
582 c ZYG006 Zygodactyly Type 2 13
583 INT300 Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome 13
584 PRT162 Partial Deletion of the Short Arm of Chromosome 6 12
585 MRR013 Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome 12
586 PST111 Posterior Fossa Malformation 12
587 ATL016 Atelencephaly 12
588 P PRT183 Partial Monosomy of the Long Arm of Chromosome 10 12
589 LWR017 Lower Limb Malformation-Hypospadias Syndrome 12
590 LRY034 Laryngotracheal Angioma 12
591 MLT170 Multiple Congenital Anomalies/dysmorphic Syndrome 12
592 MCR184 Macrodactyly of Fingers 12
593 PRT178 Partial Deletion of the Long Arm of Chromosome 5 12
594 CRV060 Cervical Dermoid Cyst 12
595 SVR082 Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome 12
596 ARC022 Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome 12
597 AML036 Amelia of Lower Limb 12
598 c HLL012 Hallermann-Streiff-Like Syndrome 12
599 INT396 Internal Carotid Absence 11
600 c MLT172 Multiple Metaphyseal Dysplasia 11
601 DST090 Distal Trisomy 2p 11
602 PRT163 Partial Deletion of the Short Arm of Chromosome 5 11
603 CNG277 Congenital Pseudoarthrosis of the Fibula 11
604 NRL025 Neural Tube Closure Defect 11
605 ISL128 Isolated Microspherophakia 11
606 PRT144 Partial Deletion of Chromosome 2 11
607 c PTR015 Paternal Uniparental Disomy of Chromosome X 11
608 CNG244 Congenital Laryngeal Cyst 11
609 CRN310 Cranial Malformation 11
610 c UNP004 Uniparental Disomy of Chromosome 2 11
611 CNG575 Congenital Joint Dislocations 11
612 PRT153 Partial Deletion of Chromosome 11 11
613 PRT215 Partial Duplication of the Short Arm of Chromosome 2 11
614 XLN157 X-Linked Intellectual Disability, Porteous Type 11
615 XLN210 X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome 11
616 c CNG620 Congenital-Onset Steinert Myotonic Dystrophy 11
617 CNG318 Congenital Genu Recurvatum 11
618 DPL010 Duplication of the Esophagus 11
619 PRT152 Partial Deletion of Chromosome 10 10
620 c ATS065 Autosomal Dominant Coarctation of Aorta 10
621 PRT185 Partial Deletion of the Long Arm of Chromosome 13 10
622 CNG272 Congenital Achiasma 10
623 PRT164 Partial Deletion of the Short Arm of Chromosome 8 10
624 c PRT205 Partial Trisomy of the Long Arm of Chromosome 5 10
625 c UNP007 Uniparental Disomy of Chromosome 6 10
626 PRT151 Partial Deletion of Chromosome 16 10
627 PRT204 Partial Duplication of the Long Arm of Chromosome 4 10
628 CNG517 Congenital Agenesis of the Scrotum 10
629 ATS453 Autosomal Anomaly 10
630 PRT187 Partial Duplication of Chromosome X 10
631 SYN155 Syndromic Anorectal Malformation 10
632 ACC010 Accessory Tricuspid Valve Tissue 10
633 PRT145 Partial Deletion of Chromosome 3 10
634 ART098 Aorto-Right Ventricular Tunnel 10
635 PRT228 Partial Duplication of Chromosome 1 10
636 PRS112 Persistent Eustachian Valve 10
637 c ISC013 Isochromosomy Yq 10
638 2P2002 2p21 Microdeletion Syndrome Without Cystinuria 10
639 PRT159 Partial Deletion of the Short Arm of Chromosome 1 10
640 PRT230 Partial Duplication of Chromosome 3 9
641 ESP045 Esophageal Malformation 9
642 DST077 Distal Trisomy 22q 9
643 DST054 Distal 17p13.3 Microdeletion Syndrome 9
644 PRT208 Partial Duplication of the Short Arm of Chromosome 8 9
645 UPP009 Upper Limb Hypertrophy 9
646 OTM002 Otomandibular Dysplasia 9
647 PRT207 Partial Duplication of the Short Arm of Chromosome 7 9
648 CRN208 Coronary Sinus Atresia 9
649 BNL004 Benallegue Lacete Syndrome 9
650 c UNP003 Uniparental Disomy of Chromosome 11 8
651 PRT154 Partial Deletion of Chromosome 18 8
652 DST075 Distal Trisomy 16q 8
653 TRS020 Tarsal Kink Syndrome 8
654 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 8
655 PRT203 Partial Duplication of the Long Arm of Chromosome 7 8
656 DZX005 Diazoxide-Resistant Hyperinsulinism 8
657 P PRT196 Partial Trisomy of the Long Arm of Chromosome 16 8
658 PRT177 Partial Deletion of the Long Arm of Chromosome 4 8
659 EN1001 En1-Related Dorsoventral Syndrome 8
660 DST067 Distal Monosomy 14q 8
661 URG006 Urogenital Tract Malformation 8
662 ISL049 Isolated Dandy-Walker Malformation Without Hydrocephalus 8
663 PRT143 Partial Deletion of Chromosome 5 8
664 P PRT173 Partial Monosomy of the Short Arm of Chromosome 20 8
665 CMP057 Complete Cryptophthalmia 8
666 BPR001 Bipartite Talus 8
667 PRT181 Partial Deletion of the Long Arm of Chromosome 8 8
668 PRT209 Partial Duplication of the Short Arm of Chromosome 17 8
669 DST083 Distal Trisomy 9q 8
670 DST074 Distal Trisomy 20q 8
671 PRT198 Partial Duplication of the Long Arm of Chromosome 14 8
672 c PTR020 Paternal Uniparental Disomy of Chromosome 20 8
673 PRT211 Partial Duplication of the Short Arm of Chromosome 11 8
674 P TSS001 Tessier Number 5 Facial Cleft 8
675 DST058 Distal Monosomy 12p 8
676 DST073 Distal Monosomy 7p 8
677 HMR031 Humeral Agenesis/hypoplasia 8
678 PRT148 Partial Deletion of Chromosome 6 7
679 c PRT190 Partial Trisomy of the Long Arm of Chromosome 18 7
680 PRT141 Partial Deletion of Chromosome 1 7
681 PRT175 Partial Deletion of the Long Arm of Chromosome 2 7
682 PRT244 Partial Deletion of the Short Arm of Chromosome 12 7
683 SPN435 Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 7
684 3Q2005 3q26q27 Microdeletion Syndrome 7
685 LPT012 Leptomyelolipoma 7
686 ATY043 Atypical Norrie Disease Due to Xp11.3 Microdeletion 7
687 DST070 Distal Monosomy 4q 7
688 LNG112 Longitudinal Limb Defect 7
689 PRT212 Partial Duplication of the Short Arm of Chromosome 16 7
690 ISL106 Isolated Congenital Microcephaly 7
691 CHR512 Cheirospondyloenchondromatosis 7
692 NND007 Non-Distal Monosomy 12q 7
693 P ISC012 Isochromosome Y 7
694 SPL072 Split Cord Malformation, Composite Type 6
695 P CHR690 Chromosome Y Structural Anomaly 6
696 PRT158 Partial Deletion of the Short Arm of Chromosome 2 6
697 FRN038 Frontonasal Arteriovenous Malformation 6
698 PRT155 Partial Deletion of Chromosome 17 6
699 PRT172 Partial Deletion of the Short Arm of Chromosome 19 6
700 c PRT188 Partial Trisomy of the Long Arm of Chromosome 20 6
701 PRT229 Partial Duplication of Chromosome 2 6
702 PRT245 Partial Deletion of Chromosome 12 6
703 CNG576 Congenital Deformities of Fingers 6
704 ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 6
705 MLF005 Malformation Syndrome with Short Stature 6
706 c LSS020 Lissencephaly with Cerebellar Hypoplasia Type B 6
707 NLX005 Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency 6
708 SPN437 Spondylodysplastic Dysplasia 6
709 c DNS012 Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum 6
710 DBL020 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect 6
711 ENC035 Encircling Double Aortic Arch 6
712 SYN118 Syndrome with Limb Reduction Defects 6
713 SVR113 Severe Lateral Tibial Bowing-Short Stature-Mild Winged Scapula-Mild Facial Dysmorphism Syndrome 6
714 PRT240 Partial Deletion of the Long Arm of Chromosome 19 6
715 c TSS003 Tessier Number 6 Facial Cleft 6
716 PHK010 Phakomatosis Spilorosea 6
717 MYB004 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome 6
718 CNT081 Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome 6
719 NSL027 Nasal Dorsum Fistula 6
720 PRT142 Partial Deletion of Chromosome 4 6
721 PRT253 Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia 6
722 CNG592 Congenital Aortic Valve Atresia 5
723 NNS143 Non-Syndromic Non-Specific Multisutural Craniosynostosis 5
724 c CHR179 Chromosome 1, Uniparental Disomy 1q12 Q21 5
725 ABS021 Absence of Uterine Body 5
726 DZX003 Diazoxide-Resistant Diffuse Hyperinsulinism 5
727 UTR055 Uterine Cervical Aplasia and Agenesis 5
728 RDL020 Radio-Ulnar Synostosis, Bilateral 5
729 NNS147 Non-Syndromic Unilambdoid Craniosynostosis 5
730 c PRM303 Primary Early-Onset Glaucoma 5
731 c SCN083 Secondary Early-Onset Glaucoma 5
732 CDL007 Caudal Regression-Sirenomelia Spectrum 5
733 PRT109 Partially Involuting Congenital Hemangioma 5
734 LNS008 Lens Position Anomaly 5
735 ISL153 Isolated Congenital Aglossia 5
736 SBD003 Sbds-Related Severe Neonatal Spondylometaphyseal Dysplasia 5
737 SPG003 Spigelian Hernia-Cryptorchidism Syndrome 5
738 PRT156 Partial Deletion of Chromosome 20 5
739 c PTR021 Paternal Uniparental Disomy of Chromosome 21 5
740 MDN006 Median Cleft of the Upper Lip and Maxilla 5
741 LWM001 Low Implantation of Placenta 5
742 ISL107 Isolated Congenital Syngnathia 5
743 PRT210 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 5
744 PRT220 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 5
745 MLT175 Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability 5
746 DPH029 Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome 5
747 PRT224 Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 5
748 PRT233 Partial Duplication of Chromosome 6 5
749 NNS046 Non-Syndromic Urogenital Tract Malformation 5
750 RDL019 Radio-Ulnar Synostosis, Unilateral 5
751 DBL013 Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect 5
752 c GLC033 Glaucoma, Hereditary Adult Type 1a 5
753 NNS139 Non-Syndromic Bicoronal and Metopic Craniosynostosis 5
754 MTR068 Mitral Valve Agenesis 5
755 CNG601 Congenital Tricuspid Malformation 5
756 c GLC035 Glaucoma, Primary Infantile Type 3a 5
757 ANM025 Anomaly of the Mitral Subvalvular Apparatus 5
758 ART160 Arterial Duct Anomaly 5
759 ISL046 Isolated Bilateral Hemispheric Cerebellar Hypoplasia 5
760 c GLC029 Glaucoma Type 1c 5
761 CNG360 Congenital Unguarded Mitral Orifice 5
762 c GLC034 Glaucoma, Hereditary Juvenile Type 1b 5
763 c TTL013 Total Autosomal Trisomy 5
764 ERL042 Early-Onset Partial Cataract 5
765 NNT001 Neonatal Infective Mastitis 4
766 CNG606 Congenital Aortic Valve Dysplasia 4
767 PRT232 Partial Trisomy/tetrasomy of Chromosome 5 4
768 PRT214 Partial Trisomy/tetrasomy of Chromosome 18 4
769 MCR188 Macrodactyly of Fingers, Unilateral 4
770 MCR190 Macrodactyly of Toes, Unilateral 4
771 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
772 ATS455 Autosomal Uniparental Disomy 4
773 EPB005 Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome 4
774 PRT221 Partial Trisomy/tetrasomy of Chromosome 9 4
775 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
776 ENC071 Encephaloclastic Disorder 4
777 NNS110 Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Prostatic Type 4
778 CNG341 Congenital Anomaly of the Coronary Sinus 4
779 TRC124 True Congenital Shoulder Dislocation 4
780 ISL051 Isolated Partial Cerebellar Vermis Agenesis 4
781 CNG361 Congenital Supravalvular Mitral Ring 4
782 PRX103 Preaxial Digit Brachydactyly-Webbed Fingers 4
783 c ISL052 Isolated Total Cerebellar Vermis Agenesis 4
784 c XND001 X and Y Chromosomal Anomaly 4
785 ASC011 Ascending Aorta Anomaly 4
786 MCR189 Macrodactyly of Toes, Bilateral 4
787 NNS107 Non-Syndromic Anorectal Malformation Without Fistula 4
788 c CHR691 Chromosome X Structural Anomaly 4
789 c SYN028 Syngnathia Multiple Anomalies 4
790 CNG315 Congenital Vertical Talus, Unilateral 4
791 CNG577 Congenital Deformities of Limbs 4
792 c CHR201 Chromosome 16, Uniparental Disomy 3
793 c CHR251 Chromosome 5, Uniparental Disomy 3
794 SYN166 Syndrome with a Dandy-Walker Malformation As a Major Feature 3
795 CRV059 Cervicofacial Fibrochondroma 3
796 NNS056 Non-Syndromic Complex Polydactyly 3
797 DYS206 Dysostosis with Brachydactyly with Extraskeletal Manifestations 3
798 DYS203 Dysostosis with Combined Reduction Defects of Upper and Lower Limbs 3
799 CLD020 Cleidocranial Dysplasia and Isolated Cranial Ossification Defect 3
800 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
801 HRT042 Heart Position Anomaly 3
802 PRL049 Paralytic Facial Malformation 3
803 CNG322 Congenital Elbow Dislocation, Unilateral 3
804 SXC006 Sex-Chromosome Structural Anomaly 3
805 NNS103 Non-Syndromic Anorectal Malformation with Rectal Stenosis 3
806 NNS065 Non-Syndromic Diaphragmatic or Abdominal Wall Malformation 3
807 CNG321 Congenital Elbow Dislocation, Bilateral 3
808 NNS100 Non-Syndromic Anorectal Malformation with Anal Stenosis 3
809 NNS066 Non-Syndromic Visceral Malformation 3
810 c CHR232 Chromosome 21, Uniparental Disomy 3
811 SYN167 Syndrome with Microcephaly As a Major Feature 3
812 NNS106 Non-Syndromic Cloacal Malformation 2
813 NNS050 Non-Syndromic Urogenital Tract Malformation of Female 2
814 PLY186 Polysomy of X Chromosome 2
815 XCH001 X Chromosome Number Anomaly with Male Phenotype 2
816 EMB004 Embryonal Carcinoma 55
817 P FTL033 Fetal Hemoglobin Quantitative Trait Locus 1 52
818 c WLM018 Wilms Tumor 5 66
819 EMB006 Embryonal Testis Carcinoma 31
820 c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 25
821 P CNT003 Central Nervous System Embryonal Carcinoma 9
822 c LYM145 Lymphatic Malformation 5 52
823 c LYM144 Lymphatic Malformation 1 48
824 c LYM161 Lymphatic Malformation 12 42
825 c LYM150 Lymphatic Malformation 7 34
826 P RRL003 Rare Lymphatic Malformation 31
827 c LYM147 Lymphatic Malformation 3 24
828 c LYM148 Lymphatic Malformation 4 24
829 c LYM159 Lymphatic Malformation 10 21
830 c LYM158 Lymphatic Malformation 9 19
831 c LYM160 Lymphatic Malformation 11 17
832 c LYM146 Lymphatic Malformation 2 16
833 OVR050 Ovarian Embryonal Carcinoma 34
834 CHL026 Childhood Ovarian Embryonal Carcinoma 8
835 c WLM013 Wilms Tumor 1 68
836 P PRS062 Persistent Hyperplastic Primary Vitreous 50
837 EMB015 Embryonal Tumor with Multilayered Rosettes 29
838 P HRD009 Hereditary Wilms' Tumor 29
839 c WLM011 Wilms Tumor 6 27
840 c WLM005 Wilms Tumor 2 26
841 GRM001 Germ Cell and Embryonal Cancer 23
842 c WLM017 Wilms Tumor 4 21
843 c WLM015 Wilms Tumor 3 19
844 c FTL065 Fetal Hemoglobin Quantitative Trait Locus 5 16
845 c FML094 Familial Wilms Tumor 2 15
846 c FTL035 Fetal Hemoglobin Quantitative Trait Locus 3 15
847 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
848 c RBN022 Robinow Syndrome, Autosomal Recessive 1 56
849 c RBN018 Robinow Syndrome, Autosomal Dominant 1 49
850 FTL012 Fetal and Neonatal Alloimmune Thrombocytopenia 47
851 c RST025 Restrictive Dermopathy 1 42
852 P BTR001 Botryoid Rhabdomyosarcoma 42
853 TRT001 Teratocarcinoma 39
854 P RST003 Restrictive Dermopathy 36
855 c RBN023 Robinow Syndrome, Autosomal Recessive 2 27
856 c RST026 Restrictive Dermopathy 2 21
857 c ADL031 Adult Botryoid Rhabdomyosarcoma 8
858 c LTH007 Lethal Congenital Contracture Syndrome 1 53
859 GRM005 Germ Cell Cancer 45
860 c LTH008 Lethal Congenital Contracture Syndrome 2 38
861 c LTH026 Lethal Congenital Contracture Syndrome 4 36
862 c LTH047 Lethal Congenital Contracture Syndrome 3 28
863 c LTH029 Lethal Congenital Contracture Syndrome 9 26
864 c LTH027 Lethal Congenital Contracture Syndrome 5 25
865 c LTH039 Lethal Congenital Contracture Syndrome 11 25
866 HRD183 Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome 22
867 c LTH031 Lethal Congenital Contracture Syndrome 6 22
868 c FTL036 Fetal Hemoglobin Quantitative Trait Locus 2 16
869 END020 Endocardial Fibroelastosis 57
870 c DYR001 Dyrk1a-Related Intellectual Disability Syndrome 35
871 SPR031 Sprengel Deformity 32
872 c SYN073 Syngap1-Related Intellectual Disability 32
873 EMB007 Embryonal Sarcoma 23
874 c INT307 Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 19
875 c HVP001 Hivep2-Related Intellectual Disability 18
876 c BCL018 Bcl11a-Related Intellectual Disability 15
877 FTL048 Fetal Lung Interstitial Tumor 14
878 c ATS403 Autosomal Dominant Intellectual Disability 40 14
879 c ATS348 Autosomal Dominant Intellectual Disability 30 13
880 c ATS360 Autosomal Recessive Intellectual Disability 58 13
881 P FTL014 Fetal Brain Disruption Sequence 11
882 CHL030 Childhood Botryoid Rhabdomyosarcoma 11
883 P RRN017 Rare Intellectual Disability 10
884 c WCR002 Wac-Related Intellectual Disability 9
885 c WDR002 Wdr26-Related Intellectual Disability 9
886 c TRR002 Trio-Related Intellectual Disability 9
887 c PPP001 Ppp2r5d-Related Intellectual Disability 8
888 RRG014 Rare Genetic Developmental Defect During Embryogenesis 7
889 c DDX001 Ddx3x-Related Intellectual Disability 4
890 EMB017 Embryonal Tumor of Neuroepithelial Tissue 4
891 NRL016 Neural Tube Defects 77
892 SCH036 Scheie Syndrome 75
893 P JBR020 Joubert Syndrome 1 72
894 P DYS007 Dyskeratosis Congenita 69
895 P SHW006 Shwachman-Diamond Syndrome 1 68
896 P CWD010 Cowden Syndrome 68
897 P JVN014 Juvenile Polyposis Syndrome 68
898 P PSD087 Pseudoxanthoma Elasticum 68
899 P ALP004 Alport Syndrome 67
900 P ART005 Arteriovenous Malformation 65
901 P HRP006 Herpes Simplex 64
902 P EHL001 Ehlers-Danlos Syndrome 64
903 KRN002 Kearns-Sayre Syndrome 63
904 P RNL100 Renal Hypodysplasia/aplasia 1 63
905 WLL001 Williams-Beuren Syndrome 63
906 P CMP005 Campomelic Dysplasia 62
907 SCH078 Schimmelpenning-Feuerstein-Mims Syndrome 62
908 P NRB001 Neuroblastoma 62
909 P SYP003 Syphilis 60
910 ESP020 Esophageal Atresia 59
911 c OST122 Osteogenesis Imperfecta, Type Iii 59
912 P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
913 MLN014 Melnick-Needles Syndrome 59
914 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 59
915 P INT070 Intestinal Obstruction 58
916 PLM070 Pulmonic Stenosis 58
917 ANS023 Anus, Imperforate 58
918 c STC015 Stickler Syndrome, Type I 57
919 P WLF004 Wolfram Syndrome 57
920 DXT001 Dextrocardia 57
921 PRS055 Pierson Syndrome 57
922 BRN056 Bronchopulmonary Dysplasia 57
923 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
924 P VNB005 Van Buchem Disease 56
925 c INT072 Intestinal Pseudo-Obstruction 56
926 MCN007 Meconium Aspiration Syndrome 56
927 P CLS054 Classic Ehlers-Danlos Syndrome 56
928 c MCP046 Mucopolysaccharidosis, Type Iiid 55
929 CHR101 Char Syndrome 55
930 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 55
931 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 55
932 CCT002 Cicatricial Pemphigoid 55
933 MLL018 Miller-Dieker Lissencephaly Syndrome 55
934 LYM029 Lymphedema-Distichiasis Syndrome 54
935 c LKD019 Leukodystrophy, Hypomyelinating, 6 53
936 P FNG006 Feingold Syndrome 1 53
937 P PTS002 Ptosis 53
938 P PRR016 Pierre Robin Syndrome 53
939 c USH035 Usher Syndrome Type 2 53
940 c BRC079 Brachydactyly, Type A2 53
941 c ART119 Arthrogryposis, Distal, Type 5 53
942 P RCS002 Recessive Dystrophic Epidermolysis Bullosa 53
943 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 53
944 PST049 Postaxial Acrofacial Dysostosis 52
945 c EPP017 Epiphyseal Dysplasia, Multiple, 1 52
946 HMH004 Hemihyperplasia, Isolated 52
947 YNS002 Yunis-Varon Syndrome 52
948 P MGC008 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 52
949 DNR002 Duane-Radial Ray Syndrome 52
950 JHN001 Johanson-Blizzard Syndrome 52
951 P FRN012 Frontometaphyseal Dysplasia 52
952 MTC018 Metachondromatosis 52
953 MYL020 Myelomeningocele 52
954 c ACH042 Achondrogenesis, Type Ib 52
955 WLF002 Wolf-Hirschhorn Syndrome 52
956 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 52
957 ABL002 Ablepharon-Macrostomia Syndrome 52
958 CKT002 Cakut 51
959 c LKD010 Leukodystrophy, Hypomyelinating, 2 51
960 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 51
961 c CNG513 Congenital Ptosis 51
962 P BRC006 Brachydactyly 51
963 INT276 Interatrial Communication 51
964 c LKD009 Leukodystrophy, Hypomyelinating, 5 50
965 P MNN007 Meningocele 50
966 OHD005 Ohdo Syndrome, Sbbys Variant 50
967 P ANX007 Anauxetic Dysplasia 1 50
968 P MCL001 Mucolipidosis 50
969 PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 50
970 NNT012 Neonatal Jaundice 50
971 SPN405 Spondyloepiphyseal Dysplasia Tarda, X-Linked 50
972 c JBR004 Joubert Syndrome 2 50
973 P APL006 Aplasia Cutis Congenita 49
974 P FBR025 Fibrochondrogenesis 49
975 c ACH033 Achondrogenesis, Type Ia 49
976 c JBR012 Joubert Syndrome 5 48
977 CRN049 Craniolenticulosutural Dysplasia 48
978 c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 48
979 CHN065 Choanal Atresia, Posterior 48
980 c JBR013 Joubert Syndrome 8 48
981 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 48
982 OGD001 Ogden Syndrome 48
983 MCR096 Macrocephaly/autism Syndrome 48
984 c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 47
985 c JBR025 Joubert Syndrome 17 47
986 c LKD020 Leukodystrophy, Hypomyelinating, 10 47
987 c CTR098 Cataract 1, Multiple Types 47
988 BLD130 Bladder Exstrophy 47
989 c JBR024 Joubert Syndrome 14 47
990 DXT002 Dextrocardia with Situs Inversus 47
991 c WRD031 Waardenburg Syndrome, Type 3 46
992 c MCK030 Meckel Syndrome, Type 7 46
993 ECT026 Ectopic Pregnancy 46
994 AYM001 Ayme-Gripp Syndrome 46
995 SPN289 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type 46
996 VTR016 Vater/vacterl Association 46
997 P GLP001 Geleophysic Dysplasia 46
998 ACR012 Aicardi Syndrome 46
999 c JBR035 Joubert Syndrome 24 46
1000 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
1001 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 46
1002 c JBR043 Joubert Syndrome 32 46
1003 c JBR031 Joubert Syndrome 21 46
1004 c EPP013 Epiphyseal Dysplasia, Multiple, 5 46
1005 OLV004 Oliver-Mcfarlane Syndrome 46
1006 P OVR076 Ovarian Dysgenesis 2 46
1007 c FBR029 Fibrochondrogenesis 1 46
1008 CHR074 Choriocarcinoma 46
1009 P OMP004 Omphalocele 45
1010 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 45
1011 END059 Endocrine-Cerebroosteodysplasia 45
1012 c JBR022 Joubert Syndrome 20 45
1013 TRC026 Tracheal Disease 45
1014 MCN017 Meconium Ileus 45
1015 c JBR011 Joubert Syndrome 7 45
1016 CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 45
1017 c CTR182 Cataract 23, Multiple Types 44
1018 WLL012 Williams-Beuren Region Duplication Syndrome 44
1019 MLY009 Molybdenum Cofactor Deficiency, Complementation Group B 44
1020 PLC007 Placental Abruption 44
1021 c JBR026 Joubert Syndrome 15 44
1022 c JBR042 Joubert Syndrome 23 44
1023 c GLP003 Geleophysic Dysplasia 1 43
1024 c JBR016 Joubert Syndrome 10 43
1025 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 43
1026 c CTR130 Cataract 9, Multiple Types 43
1027 c LSS009 Lissencephaly 3 43
1028 LYM094 Lymphedema, Primary, with Myelodysplasia 43
1029 CHR211 Chromosome 18p Deletion Syndrome 43
1030 c ACR126 Acromesomelic Dysplasia 2c 42
1031 c LKD023 Leukodystrophy, Hypomyelinating, 12 42
1032 c ALP105 Alport Syndrome 2, Autosomal Recessive 42
1033 c ALP104 Alport Syndrome 3, Autosomal Dominant 42
1034 P OVR082 Overgrowth Syndrome 42
1035 c CNG033 Congenital Syphilis 42
1036 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 42
1037 CHR523 Chromosome 15q11.2 Deletion Syndrome 42
1038 DPH019 Diaphanospondylodysostosis 42
1039 PLY100 Polyploidy 42
1040 CMP035 Complete Atrioventricular Canal 42
1041 c ACR127 Acromesomelic Dysplasia 2b 41
1042 MDL009 Medullary Sponge Kidney 41
1043 HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 41
1044 c LKD015 Leukodystrophy, Hypomyelinating, 3 41
1045 c GLP004 Geleophysic Dysplasia 2 41
1046 P RDL002 Radioulnar Synostosis 41
1047 c NRB010 Neuroblastoma 1 41
1048 IFP002 Ifap Syndrome 1, with or Without Bresheck Syndrome 41
1049 c LKD016 Leukodystrophy, Hypomyelinating, 9 41
1050 VND005 Van Den Ende-Gupta Syndrome 41
1051 c FRN049 Frontometaphyseal Dysplasia 1 41
1052 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 41
1053 CHL073 Cholestasis-Lymphedema Syndrome 41
1054 P BRT062 Bartsocas-Papas Syndrome 1 40
1055 ARC008 Auriculo-Condylar Syndrome 40
1056 PLY110 Polymicrogyria, Bilateral Temporooccipital 40
1057 c JBR015 Joubert Syndrome 6 40
1058 FRY002 Fryns Syndrome 40
1059 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 40
1060 c JBR030 Joubert Syndrome 22 40
1061 CHR590 Chromosome 15q11-Q13 Duplication Syndrome 40
1062 c ORF038 Orofaciodigital Syndrome Iii 40
1063 c OVR075 Ovarian Dysgenesis 1 40
1064 c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 40
1065 NNN033 Noonan Syndrome and Noonan-Related Syndrome 40
1066 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 39
1067 EPD117 Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous 39
1068 ISL121 Isolated Split Hand-Split Foot Malformation 39
1069 DST008 Diastematomyelia 39
1070 SPN358 Spondyloepimetaphyseal Dysplasia, X-Linked 39
1071 c APL023 Aplasia Cutis Congenita, Nonsyndromic 39
1072 P LTH003 Lethal Congenital Contracture Syndrome 39
1073 c FBR030 Fibrochondrogenesis 2 39
1074 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 39
1075 c CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 39
1076 PYL017 Pyle Disease 39
1077 c JBR028 Joubert Syndrome 13 39
1078 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 39
1079 c JBR037 Joubert Syndrome 26 39
1080 ATY022 Atypical Coarctation of Aorta 39
1081 c JBR027 Joubert Syndrome 16 39
1082 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
1083 THR017 Thoracoabdominal Syndrome 39
1084 P SNG014 Singleton-Merten Syndrome 39
1085 c PK3004 Pik3ca-Related Overgrowth Spectrum 38
1086 c DNT021 Dent Disease 2 38
1087 c LKD022 Leukodystrophy, Hypomyelinating, 13 38
1088 c RBN020 Robinow Syndrome, Autosomal Dominant 3 38
1089 P NNP021 Nanophthalmos 38
1090 MLC004 Mulchandani-Bhoj-Conlin Syndrome 38
1091 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 37
1092 CHR225 Chromosome 1q21.1 Duplication Syndrome 37
1093 c LKD021 Leukodystrophy, Hypomyelinating, 11 37
1094 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 37
1095 c JBR036 Joubert Syndrome 25 37
1096 c BRC062 Brachydactyly, Type D 37
1097 MHR002 Mohr Syndrome 37
1098 c GLP007 Geleophysic Dysplasia 3 37
1099 c JBR021 Joubert Syndrome 18 37
1100 c SCN006 Secondary Syphilis 37
1101 ODN009 Odontoonychodermal Dysplasia 37
1102 P CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 36
1103 P SCL047 Sclerocornea 36
1104 c JBR040 Joubert Syndrome 30 36
1105 c FRN048 Frontometaphyseal Dysplasia 2 36
1106 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 36
1107 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 36
1108 c DVL097 Developmental and Epileptic Encephalopathy 73 36
1109 CYS021 Cystic Adenomatoid Malformation of Lung 36
1110 P CRN074 Coronary Artery Aneurysm 36
1111 P HYP700 Hypomyelinating Leukodystrophy 36
1112 ISL109 Isolated Cleft Lip 36
1113 c 46X057 46,xy Sex Reversal 8 35
1114 STL007 Steel Syndrome 35
1115 HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 35
1116 c WLL040 Weill-Marchesani Syndrome 4 35
1117 c BRC075 Brachydactyly, Type A1, C 35
1118 NVL003 Nivelon-Nivelon-Mabille Syndrome 35
1119 ABR009 Abruzzo-Erickson Syndrome 35
1120 c SYN084 Synpolydactyly 1 35
1121 c JBR045 Joubert Syndrome 33 35
1122 c DFN147 Deafness, X-Linked 4 35
1123 OSB001 Osebold-Remondini Syndrome 35
1124 ANM001 Anemia of Prematurity 35
1125 ICH066 Ichthyosis--Cheek--Eyebrow Syndrome 34
1126 c DFN194 Deafness, X-Linked 1 34
1127 c BRC060 Brachydactyly, Type E2 34
1128 SYN063 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 34
1129 c JBR014 Joubert Syndrome 9 34
1130 c XLN004 X-Linked Nonsyndromic Deafness 34
1131 c CNG100 Congenital Herpes Simplex 34
1132 P ACR072 Acrorenal Syndrome 34
1133 c LYM149 Lymphatic Malformation 6 34
1134 c ANX008 Anauxetic Dysplasia 2 34
1135 LSC003 Luscan-Lumish Syndrome 33
1136 c BRC099 Brachydactyly, Type A4 33
1137 BRN055 Bronchogenic Cyst 33
1138 c CLR090 Ciliary Dyskinesia, Primary, 22 33
1139 P OTP008 Otopalatodigital Syndrome Spectrum Disorder 33
1140 c SNG011 Singleton-Merten Syndrome 1 33
1141 PRG023 Progeroid Short Stature with Pigmented Nevi 33
1142 PSD030 Pseudodiastrophic Dysplasia 33
1143 LRY047 Laryngeal Abductor Paralysis 33
1144 c BRC047 Bruck Syndrome 1 33
1145 HRD037 Hardikar Syndrome 33
1146 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 33
1147 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 33
1148 SCH055 Schilbach-Rott Syndrome 32
1149 OHD003 Ohdo Syndrome, X-Linked 32
1150 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 32
1151 c DFN370 Deafness, X-Linked 7 32
1152 c DFN276 Deafness, X-Linked 6 32
1153 c NRB015 Neuroblastoma 2 32
1154 RFM002 Roifman-Chitayat Syndrome 32
1155 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 32
1156 TTR012 Tetrasomy 9p 32
1157 c BRC105 Brachydactyly, Type A1, D 32
1158 c PRM022 Primary Syphilis 32
1159 LMB010 Lambert Syndrome 31
1160 c CTR124 Cataract 10, Multiple Types 31
1161 c CNG514 Congenital Radioulnar Synostosis 31
1162 12Q002 12q14 Microdeletion Syndrome 31
1163 c LTC001 Late Congenital Syphilis 31
1164 ANR010 Aneurysm of Sinus of Valsalva 31
1165 MCR324 Microphthalmia/coloboma and Skeletal Dysplasia Syndrome 31
1166 EMP011 Emphysema, Congenital Lobar 31
1167 c DYS040 Dyskeratosis Congenita Autosomal Recessive 31
1168 TTR014 Tetrasomy 18p 31
1169 MTC100 Metacarpal 4-5 Fusion 31
1170 P PRC050 Pericardium Disease 31
1171 CHR265 Chromosome 8p Duplication 30
1172 PRX085 Preaxial Hallucal Polydactyly 30
1173 UVL009 Uvula, Bifid 30
1174 P CRN249 Cornea Plana 30
1175 c JBR039 Joubert Syndrome 28 30
1176 c CHR227 Chromosome 20 Trisomy 30
1177 MCR067 Microcoria, Congenital 30
1178 SVR061 Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 30
1179 c DNC007 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 30
1180 c JVN034 Juvenile Polyposis of Infancy 30
1181 CRP028 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 30
1182 c FNG009 Feingold Syndrome 2 30
1183 MSM004 Mesomelia-Synostoses Syndrome 30
1184 NSL017 Nasolacrimal Duct Cyst 29
1185 c MLT141 Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly 29
1186 c BRC108 Brachydactyly, Type A3 29
1187 HYP728 Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia 29
1188 RCM003 Recombinant Chromosome 8 Syndrome 29
1189 RHM015 Rhombencephalosynapsis 29
1190 c RNG022 Ring Chromosome 6 29
1191 CHR483 Chromosome 3q13.31 Deletion Syndrome 29
1192 PNL023 Penile Agenesis 29
1193 P TRS029 Trisomy 1q 29
1194 c RNG007 Ring Chromosome 12 29
1195 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 29
1196 CHR182 Chromosome 10p Duplication 29
1197 c NRB014 Neuroblastoma 3 28
1198 c DFN146 Deafness, X-Linked 3 28
1199 CHR586 Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb 28
1200 49X004 49,xyyyy Syndrome 28
1201 CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 28
1202 SYS006 Say Syndrome 28
1203 CRN272 Craniometadiaphyseal Dysplasia 28
1204 c SHW007 Shwachman-Diamond Syndrome 2 28
1205 NSY001 N Syndrome 28
1206 EXT062 Extracranial Carotid Artery Aneurysm 28
1207 c ERL002 Early Congenital Syphilis 28
1208 CHR212 Chromosome 18p Duplication 28
1209 c LKD028 Leukodystrophy, Hypomyelinating, 15 28
1210 SPN328 Spondyloepiphyseal Dysplasia, Stanescu Type 28
1211 c LKD030 Leukodystrophy, Hypomyelinating, 17 28
1212 HYP180 Hypertrichosis Lanuginosa Congenita 28
1213 ACR102 Acrorenal-Mandibular Syndrome 28
1214 CHR369 Chromosome Xq28 Duplication Syndrome 27
1215 FTL064 Fetal Methylmercury Syndrome 27
1216 CHR010 Chorioangioma 27
1217 ISL011 Isolated Aniridia 27
1218 c ART131 Arthrogryposis, Distal, Type 4 27
1219 ORF053 Orofacial Clefting Syndrome 27
1220 P PST016 Posterior Polar Cataract 27
1221 c JBR044 Joubert Syndrome 31 27
1222 CLN022 Colonic Atresia 27
1223 P RNG032 Ring Chromosome 27
1224 SHR097 Short Tarsus with Absence of Lower Eyelashes 27
1225 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 27
1226 KYP002 Kyphomelic Dysplasia 27
1227 PRT131 Partial Trisomy Distal 4q 27
1228 ATR055 Atrial Septal Aneurysm 27
1229 PRT043 Parietal Foramina with Cleidocranial Dysplasia 27
1230 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 26
1231 c CTR116 Cataract 15, Multiple Types 26
1232 c MCK026 Meckel Syndrome 12 26
1233 c LKD027 Leukodystrophy, Hypomyelinating, 14 26
1234 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 26
1235 c LKD031 Leukodystrophy, Hypomyelinating, 18 26
1236 c OCY003 Oocyte Maturation Defect 1 26
1237 c JBR049 Joubert Syndrome 37 26
1238 NVR001 Nievergelt Syndrome 26
1239 c RDL040 Radioulnar Synostosis, Nonsyndromic 26
1240 P ADD006 Adducted Thumbs Syndrome 26
1241 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 25
1242 c MGC012 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 25
1243 c LTH032 Lethal Congenital Contracture Syndrome 7 25
1244 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 25
1245 c NNP011 Nanophthalmos 2 25
1246 c LKD029 Leukodystrophy, Hypomyelinating, 16 25
1247 CHR241 Chromosome 2q24 Microdeletion Syndrome 25
1248 c CRN280 Cornea Plana 2, Autosomal Recessive 25
1249 NNS133 Non-Syndromic Metopic Craniosynostosis 25
1250 ATR017 Atrial Septal Defect Coronary Sinus 25
1251 MCD002 Mcdonough Syndrome 25
1252 LRY046 Laryngeal Web, Familial 25
1253 c ANX011 Anauxetic Dysplasia 3 25
1254 8PN001 8p Inverted Duplication/deletion Syndrome 25
1255 DRM041 Dermoid Cysts, Familial Frontonasal 25
1256 c INT407 Intellectual Developmental Disorder, X-Linked, Syndromic 11 25
1257 P OCY002 Oocyte Maturation Defect 2 25
1258 MCR309 Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 25
1259 c OVR107 Ovarian Dysgenesis 4 25
1260 c ACR105 Acrofrontofacionasal Dysostosis 2 24
1261 c NNP012 Nanophthalmos 4 24
1262 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1263 c MGC009 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 24
1264 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 24
1265 c MNS008 Monosomy 21 24
1266 c JBR047 Joubert Syndrome 35 24
1267 P PHC014 Phocomelia 24
1268 AML065 Amelia 24
1269 c JBR038 Joubert Syndrome 27 24
1270 CHR555 Chromosome 3p- Syndrome 24
1271 ATR019 Atrial Septal Defect Sinus Venosus 24
1272 BLP009 Blepharonasofacial Malformation Syndrome 24
1273 16P003 16p13.11 Microdeletion Syndrome 24
1274 NRF010 Neurofaciodigitorenal Syndrome 24
1275 c RNG006 Ring Chromosome 11 24
1276 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 24
1277 SYM024 Symphalangism, Distal 24
1278 c SNG012 Singleton-Merten Syndrome 2 24
1279 ART166 Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum 24
1280 c DKP001 Dk Phocomelia Syndrome 24
1281 LLS001 Lelis Syndrome 24
1282 c JBR050 Joubert Syndrome 38 24
1283 c DNC008 Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 24
1284 CMB063 Combined Oxidative Phosphorylation Deficiency 25 24
1285 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 23
1286 c RNG015 Ring Chromosome 2 23
1287 NNT021 Neonatal Meningitis 23
1288 c CTR136 Cataract 41 23
1289 SPL055 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 23
1290 SCH031 Scholte Syndrome 23
1291 IST006 Isotretinoin Syndrome 23
1292 TBL030 Tibial Aplasia-Ectrodactyly Syndrome 23
1293 c LKD035 Leukodystrophy, Hypomyelinating, 22 23
1294 STR088 Stratton-Parker Syndrome 23
1295 c JBR048 Joubert Syndrome 36 23
1296 c RNG019 Ring Chromosome 3 23
1297 CRB144 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 23
1298 UTR054 Uterine Hypoplasia 23
1299 MTR027 Mitral Atresia 23
1300 c BRT063 Bartsocas-Papas Syndrome 2 23
1301 CMP039 Camptodactyly 1 23
1302 HMM005 Hemimelia 23
1303 CHR612 Chromosome 15q14 Deletion Syndrome 23
1304 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 23
1305 c JBR051 Joubert Syndrome 39 23
1306 VRR008 Verrucous Hemangioma 22
1307 CRN156 Craniofacioskeletal Syndrome 22
1308 P CMP082 Complex Cortical Dysplasia with Other Brain Malformations 22
1309 SPT023 Septate Uterus 22
1310 c OCY004 Oocyte Maturation Defect 3 22
1311 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 22
1312 c MNS011 Monosomy 9q22.3 22
1313 ULN014 Ulnar Hemimelia 22
1314 CHR610 Chromosome 10q22.3-Q23.2 Deletion Syndrome 22
1315 P YLN003 Y-Linked Deafness 22
1316 c JBR052 Joubert Syndrome 40 22
1317 MCR274 Microcephalic Primordial Dwarfism, Montreal Type 22
1318 ULN005 Ulna and Fibula, Hypoplasia of 22
1319 c MGC011 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 22
1320 PCM001 Pacman Dysplasia 22
1321 c TRS012 Trisomy 22 22
1322 DBL007 Double Outlet Left Ventricle 22
1323 DST045 Distal Trisomy 6p 22
1324 c OVR102 Ovarian Dysgenesis 3 22
1325 CNG009 Congenital Aortic Valve Stenosis 22
1326 c OVR119 Ovarian Dysgenesis 7 22
1327 ERY043 Euryblepharon 22
1328 CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 22
1329 c LKD033 Leukodystrophy, Hypomyelinating, 20 21
1330 P PTR018 Paternal Uniparental Disomy of Chromosome 6 21
1331 P CNG070 Congenital Dislocation of the Patella 21
1332 9Q3002 9q33.3q34.11 Microdeletion Syndrome 21
1333 c LKD034 Leukodystrophy, Hypomyelinating, 21 21
1334 SMM003 Summitt Syndrome 21
1335 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 21
1336 DST059 Distal Trisomy 17q 21
1337 c LYM155 Lymphatic Malformation 8 21
1338 DST044 Distal Trisomy 14q 21
1339 c NNP017 Nanophthalmos 1 21
1340 PRR029 Pierre Robin Syndrome and Oligodactyly 21
1341 RHZ012 Rhizomelic Dysplasia, Patterson-Lowry Type 21
1342 PHS030 Phosphoribosylaminoimidazole Carboxylase Deficiency 21
1343 EHL036 Ehlers-Danlos/osteogenesis Imperfecta Syndrome 21
1344 1Q4001 1q44 Microdeletion Syndrome 21
1345 BRC093 Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction 21
1346 c RNL099 Renal Hypodysplasia/aplasia 2 21
1347 CRN308 Coronary Arterial Fistula 21
1348 LVC002 Levocardia 21
1349 c BRC080 Brachydactyly, Type A1, B 21
1350 c OVR127 Ovarian Dysgenesis 9 21
1351 EDN001 Edinburgh Malformation Syndrome 20
1352 1QD001 1q Duplications 20
1353 P DNC006 Diencephalic-Mesencephalic Junction Dysplasia 20
1354 19P001 19p13.12 Microdeletion Syndrome 20
1355 P ERL043 Early-Onset Nuclear Cataract 20
1356 c OVR115 Ovarian Dysgenesis 5 20
1357 CNT104 Contractures, Congenital, Torticollis, and Malignant Hyperthermia 20
1358 c ANG053 Angelman Syndrome Due to Maternal 15q11q13 Deletion 20
1359 MNS012 Monostotic Fibrous Dysplasia 20
1360 c LKD037 Leukodystrophy, Hypomyelinating, 24 20
1361 8P1001 8p11.2 Deletion Syndrome 20
1362 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 20
1363 PSD103 Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies 20
1364 PLY088 Polyvalvular Heart Disease Syndrome 20
1365 FTL058 Fetal Trimethadione Syndrome 20
1366 17Q012 17q24.2 Microdeletion Syndrome 20
1367 BMR004 Beemer Lethal Malformation Syndrome 20
1368 OCL057 Oculotrichodysplasia 20
1369 MCR317 Macrophthalmia, Colobomatous, with Microcornea 20
1370 CNG101 Congenital Human Immunodeficiency Virus 20
1371 SVR009 Seaver Cassidy Syndrome 20
1372 c RNG011 Ring Chromosome 16 19
1373 NSL020 Nasal Glial Heterotopia 19
1374 c OVR120 Ovarian Dysgenesis 8 19
1375 c MGC010 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 19
1376 c ADD007 Adducted Thumbs, Congenital 19
1377 c CRN279 Cornea Plana 1, Autosomal Dominant 19
1378 GTR012 Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 19
1379 c ATS454 Autosomal Trisomy 19
1380 ANG057 Angioosteohypotrophic Syndrome 19
1381 KNS006 Kniest-Like Dysplasia, Lethal 19
1382 BLT023 Bilateral Acute Depigmentation of the Iris 19
1383 CRV062 Cervical Spina Bifida Cystica 19
1384 OST047 Osteopenia and Sparse Hair 19
1385 CHR363 Chromosome 17q23.1-Q23.2 Duplication Syndrome 19
1386 ART113 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 19
1387 MLN018 Moloney Syndrome 19
1388 c DFN372 Deafness, Y-Linked 2 19
1389 FRY007 Fryns Macrocephaly 19
1390 SKL031 Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome 19
1391 P ATS469 Autosomal Monosomy 19
1392 SPN132 Spondyloepimetaphyseal Dysplasia with Hypotrichosis 19
1393 SXC007 Sex-Chromosome Anomaly 18
1394 c OVR118 Ovarian Dysgenesis 6 18
1395 c PRG093 Pregnancy Loss, Recurrent 3 18
1396 c PTS018 Ptosis, Hereditary Congenital 1 18
1397 LMB056 Lumbosacral Spina Bifida Cystica 18
1398 SPN243 Spondyloepimetaphyseal Dysplasia, Irapa Type 18
1399 c OCY006 Oocyte Maturation Defect 5 18
1400 TTR021 Tetrasomy 21 18
1401 HYD051 Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis 18
1402 PLY132 Polysyndactyly, Crossed 18
1403 3Q2006 3q27.3 Microdeletion Syndrome 18
1404 PTN009 Patent Urachus 18
1405 c MTR063 Maternal Uniparental Disomy of Chromosome 2 18
1406 DST069 Distal Monosomy 12q 18
1407 HRS037 Hirschsprung Disease with Type D Brachydactyly 18
1408 TRN013 Transient Neonatal Thrombocytopenia 18
1409 BRC096 Brachydactyly-Distal Symphalangism Syndrome 18
1410 c OCY007 Oocyte Maturation Defect 6 18
1411 MSC086 Mesocardia 18
1412 HLL011 Hall-Riggs Syndrome 18
1413 SPR065 Supernumerary Nostril 18
1414 c RNL129 Renal Hypodysplasia/aplasia 4 18
1415 c OVR128 Ovarian Dysgenesis 10 18
1416 UPP007 Upper Thoracic Spina Bifida Cystica 18
1417 UPP008 Upper Thoracic Spina Bifida Aperta 18
1418 CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 18
1419 c OMP009 Omphalocele, Autosomal 18
1420 ULN021 Ulnar Hypoplasia with Lobster-Claw Deformity of Feet 18
1421 DYS128 Dysplasia of Head of Femur, Meyer Type 18
1422 HYP689 Hypomelia with Mullerian Duct Anomalies 18
1423 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 18
1424 AMN013 Aminopterin/methotrexate Embryofetopathy 18
1425 PRM238 Primary Intralymphatic Angioendothelioma 17
1426 20P001 20p12.3 Microdeletion Syndrome 17
1427 CNG284 Congenital Pseudoarthrosis of the Tibia 17
1428 MSC080 Mosaic Trisomy 12 17
1429 MSC078 Mosaic Trisomy 17 17
1430 SYN116 Syndromic Obesity 17
1431 c DFN186 Deafness, Y-Linked 1 17
1432 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 17
1433 CMP097 Complex Chromosomal Rearrangement 17
1434 11Q001 11q22.2q22.3 Microdeletion Syndrome 17
1435 c PRG096 Pregnancy Loss, Recurrent 2 17
1436 6P2001 6p22 Microdeletion Syndrome 17
1437 TYS007 Tyshchenko Syndrome 17
1438 DST035 Distal Trisomy 18q 17
1439 c OCY008 Oocyte Maturation Defect 7 17
1440 RDL031 Radial Aplasia, X-Linked 17
1441 HMF003 Hemifacial Myohyperplasia 17
1442 16P005 16p11.2p12.2 Microduplication Syndrome 17
1443 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 17
1444 c BRC037 Brachydactyly Type A7 17
1445 NNS132 Non-Syndromic Craniosynostosis 17
1446 EPP005 Epiphyseal Dysplasia Hearing Loss Dysmorphism 17
1447 ODN021 Odontotrichoungual-Digital-Palmar Syndrome 16
1448 c ERL044 Early-Onset Posterior Polar Cataract 16
1449 PLM065 Pulmonary Supravalvular Stenosis 16
1450 c CNG433 Congenital Cornea Plana 16
1451 1P2001 1p21.3 Microdeletion Syndrome 16
1452 HYP497 Hyperphalangy 16
1453 ALB022 Albinism-Microcephaly-Digital Anomalies Syndrome 16
1454 c OCY013 Oocyte Maturation Defect 12 16
1455 DRM038 Dermotrichic Syndrome 16
1456 c OCY010 Oocyte Maturation Defect 9 16
1457 DDL001 Didelphys Uterus 16
1458 DSP003 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 16
1459 SBP005 Subpulmonary Stenosis 16
1460 OLV003 Olivopontocerebellar Atrophy Deafness 16
1461 c OCY009 Oocyte Maturation Defect 8 16
1462 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
1463 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 16
1464 FRN047 Frontonasal Dysplasia with Alar Clefts 16
1465 c ACR115 Acrorenal Syndrome, Autosomal Recessive 16
1466 OVR110 Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome 16
1467 CNG067 Congenital Cystic Eye 16
1468 XSM001 X Small Rings 16
1469 ESP040 Esophageal Duplication Cyst 16
1470 ISL120 Isolated Cerebellar Agenesis 16
1471 c PTS010 Ptosis, Hereditary Congenital 2 16
1472 PST104 Postaxial Oligodactyly, Tetramelic 15
1473 PLT010 Pili Torti Onychodysplasia 15
1474 DFN014 Deafness Nephritis Anorectal Malformation 15
1475 9Q2003 9q21.13 Microdeletion Syndrome 15
1476 CNT114 Central Nervous System Malformation 15
1477 CNG288 Congenital Absence of Upper Arm and Forearm with Hand Present 15
1478 MCR242 Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 15
1479 MTP017 Metaphyseal Chondrodysplasia, Kaitila Type 15
1480 ACH028 Acheiria 15
1481 PRS111 Persistent Fifth Aortic Arch 15
1482 HYP671 Hypomyelination Neuropathy-Arthrogryposis Syndrome 15
1483 GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 15
1484 APR008 Aprosencephaly and Cerebellar Dysgenesis 15
1485 c OCY011 Oocyte Maturation Defect 10 15
1486 FTL024 Fetal Minoxidil Syndrome 15
1487 PRT165 Partial Deletion of the Short Arm of Chromosome 7 15
1488 LNG081 Longitudinal Vaginal Septum 15
1489 BRN122 Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome 15
1490 FML224 Familial Idiopathic Dilatation of the Right Atrium 15
1491 XYL001 Xylt1-Cdg 15
1492 PRX083 Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome 15
1493 c NRB012 Neuroblastoma 5 15
1494 XQ1001 Xq12-Q13.3 Duplication Syndrome 15
1495 AML037 Amelia of Upper Limb 14
1496 CRB211 Cerebral Cortical Dysplasia 14
1497 NDL022 Nodular Neuronal Heterotopia 14
1498 FRT004 Fourth Branchial Cleft Anomaly 14
1499 TRC112 Trochlea of the Humerus, Aplasia of 14
1500 20Q002 20q11.2 Microduplication Syndrome 14
1501 MSC084 Mosaic Genome-Wide Paternal Uniparental Disomy 14
1502 JXT004 Juxtaposition of the Atrial Appendages 14
1503 ISC019 Ischiovertebral Syndrome 14
1504 c NRB016 Neuroblastoma 7 14
1505 SBM006 Submucosal Cleft Palate 14
1506 CCN010 Cocaine Embryofetopathy 14
1507 CLB032 Coloboma of Macula and Skeletal Anomalies 14
1508 CHN047 Chondroectodermal Dysplasia with Night Blindness 14
1509 DST052 Distal 7q11.23 Microduplication Syndrome 14
1510 LTR017 Lateral Facial Cleft 14
1511 P LTH050 Lethal Chondrodysplasia 14
1512 MTR084 Maternal Hyperthermia-Induced Birth Defects 14
1513 CRB061 Cerebellar Hypoplasia Tapetoretinal Degeneration 14
1514 P LRY049 Laryngotracheoesophageal Cleft Type 4 14
1515 c ACQ026 Acquired Pseudoxanthoma Elasticum 14
1516 9Q3001 9q31.1q31.3 Microdeletion Syndrome 14
1517 14Q003 14q11.2 Microduplication Syndrome 14
1518 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 14
1519 FRS008 Froster-Huch Syndrome 14
1520 P CNG396 Congenital Pulmonary Airway Malformation Type 2 14
1521 ANN018 Anonychia, Total, with Microcephaly 14
1522 c MTR057 Maternal Uniparental Disomy of Chromosome X 14
1523 CNG335 Congenital Ectropion Uveae 14
1524 c OCY012 Oocyte Maturation Defect 11 14
1525 FNG014 Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature 14
1526 ART130 Arthrogryposis with Hyperkeratosis 14
1527 c TNX002 Tnxb-Related Classical-Like Ehlers-Danlos Syndrome 14
1528 ECT107 Ectasia of the Left Atrial Appendage 14
1529 INF188 Inferior Vena Cava Interruption Without Azygos Continuation 14
1530 PRP103 Peripapillary Staphyloma 14
1531 HRR003 Herrmann Opitz Craniosynostosis 13
1532 MCR299 Microlissencephaly-Micromelia Syndrome 13
1533 CRN087 Craniomicromelic Syndrome 13
1534 c CTR176 Cataract, Age-Related Nuclear 13
1535 CNG587 Congenital Limb Malformation 13
1536 c NNP008 Nanophthalmos 3 13
1537 THR083 Third Branchial Cleft Anomaly 13
1538 GLB019 Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome 13
1539 TRN045 True Unicornuate Uterus 13
1540 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 13
1541 PRT184 Partial Deletion of the Long Arm of Chromosome 11 13
1542 XLN144 X-Linked Intellectual Disability, Seemanova Type 13
1543 CRT077 Cortical Blindness-Intellectual Disability-Polydactyly Syndrome 13
1544 CNG282 Congenital Knee Dislocation 13
1545 CNG344 Congenital Anomaly of the Inferior Vena Cava 13
1546 c NRB011 Neuroblastoma 4 13
1547 ERL036 Early-Onset Posterior Subcapsular Cataract 13
1548 AGN011 Agenesis of the Superior Vena Cava 13
1549 c INT382 Intermediate Atrioventricular Septal Defect 12
1550 PRT180 Partial Deletion of the Long Arm of Chromosome 7 12
1551 CLF040 Cleft Lip-Retinopathy Syndrome 12
1552 c GJC002 Gjc2-Related Late-Onset Primary Lymphedema 12
1553 INT357 Intestinal Malformation 12
1554 THC006 Thickened Earlobes-Conductive Deafness Syndrome 12
1555 PRT237 Partial Deletion of the Long Arm of Chromosome 16 12
1556 c CNG343 Congenital Coronary Artery Aneurysm 12
1557 PRT169 Partial Deletion of the Short Arm of Chromosome 11 12
1558 PRC041 Pericardial and Diaphragmatic Defect 12
1559 FRN052 Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome 12
1560 DST089 Distal Trisomy 3p 12
1561 c TRS033 Trisomy 18-Like Syndrome 12
1562 ANK018 Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 12
1563 SYM014 Symbrachydactyly of Hands and Feet 12
1564 c NRB013 Neuroblastoma 6 12
1565 PRT186 Partial Duplication of the Long Arm of Chromosome X 12
1566 PRT138 Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome 12
1567 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 12
1568 DST081 Distal Trisomy 11q 12
1569 CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 12
1570 XLN142 X-Linked Intellectual Disability, Stevenson Type 12
1571 c VNB003 Van Buchem Disease Type 2 12
1572 CNG279 Congenital Pseudoarthrosis of the Ulna 11
1573 c MTR067 Maternal Uniparental Disomy of Chromosome 16 11
1574 DYS176 Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome 11
1575 c CTD001 Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy 11
1576 DST085 Distal Trisomy 2q 11
1577 UNL012 Unilateral Hemispheric Polymicrogyria 11
1578 PRT200 Partial Duplication of the Long Arm of Chromosome 2 11
1579 CNG352 Congenital Stenosis of the Inferior Vena Cava 11
1580 TNN014 Tunnel Subaortic Stenosis 11
1581 ACR121 Acromelic Dysplasia 11
1582 PRN048 Prenatal Benign Hypophosphatasia 11
1583 DST057 Distal Trisomy 19q 11
1584 DST076 Distal Trisomy 13q 11
1585 c DYS225 Dyskeratosis Congenita, Autosomal Recessive 8 11
1586 SBR012 Subaortic Stenosis, Membranous 11
1587 CNG327 Congenital Epstein-Barr Virus Infection 11
1588 PRT106 Partial Duplication of the Short Arm of Chromosome X 11
1589 FCL058 Facial Arteriovenous Malformation 11
1590 CHL160 Childhood-Onset Steinert Myotonic Dystrophy 11
1591 ONY006 Onychodystrophy-Anonychia 11
1592 c PTR019 Paternal Uniparental Disomy of Chromosome 5 11
1593 INT248 Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome 11
1594 MRN008 Marin-Amat Syndrome 11
1595 PRT166 Partial Deletion of the Short Arm of Chromosome 10 11
1596 PRC042 Parachute Tricuspid Valve 11
1597 PYR042 Pyramidal Molars-Abnormal Upper Lip Syndrome 10
1598 SPL071 Split Cord Malformation Type Ii 10
1599 LFT022 Left Sided Atrial Isomerism 10
1600 c RRR004 Rare Arteriovenous Malformation 10
1601 PRT202 Partial Duplication of the Long Arm of Chromosome 6 10
1602 DBR003 Dobrow Syndrome 10
1603 3Q2004 3q26 Microduplication Syndrome 10
1604 c CNG406 Congenital Pulmonary Airway Malformation Type 0 10
1605 PRT171 Partial Deletion of the Short Arm of Chromosome 18 10
1606 c PTL011 Patella, Familial Recurrent Dislocation of 10
1607 MCR301 Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome 10
1608 PRM302 Paramedian Facial Cleft 10
1609 DST078 Distal Trisomy 6q 10
1610 SYN027 Syngnathia Cleft Palate 10
1611 c PRT182 Partial Monosomy of the Long Arm of Chromosome 9 10
1612 FML336 Familial Patent Arterial Duct 10
1613 CRN207 Coronary Sinus Stenosis 10
1614 PRT160 Partial Deletion of the Short Arm of Chromosome 4 10
1615 c EZH001 Ezh2-Related Overgrowth 10
1616 PRT231 Partial Duplication of Chromosome 4 10
1617 c BRC035 Brachydactyly Type A5 10
1618 PRT167 Partial Deletion of the Short Arm of Chromosome 9 10
1619 BLK004 Blake Pouch Cyst 10
1620 XLN252 X-Linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection 10
1621 KLH007 Klhl7-Related Bohring-Opitz-Like/cold-Induced Sweating-Like Overlap Syndrome 10
1622 PRT179 Partial Deletion of the Long Arm of Chromosome 6 10
1623 PRT236 Partial Deletion of the Long Arm of Chromosome 15 10
1624 PRT249 Partial Autosomal Monosomy 10
1625 OMP003 Omphalomesenteric Cyst 9
1626 c SCN085 Secondary Ectropion 9
1627 INV017 Inverse Marcus-Gunn Phenomenon 9
1628 PRT218 Partial Duplication of the Short Arm of Chromosome 3 9
1629 PRT195 Partial Duplication of the Long Arm of Chromosome 8 9
1630 DST088 Distal Trisomy 1p36 9
1631 c FML317 Familial Monosomy 7 Syndrome 9
1632 P PRM337 Primary Osteolysis 9
1633 c MTR064 Maternal Uniparental Disomy of Chromosome 22 9
1634 PRT238 Partial Deletion of the Long Arm of Chromosome 17 9
1635 PRT241 Partial Deletion of the Long Arm of Chromosome 20 9
1636 DST087 Distal Trisomy 7p 9
1637 PRT225 Partial Duplication of Chromosome 17 9
1638 CNG355 Congenital Eyelid Retraction 9
1639 TRC108 Trichodysplasia-Amelogenesis Imperfecta Syndrome 9
1640 ISL071 Isolated Congenital Ectropion 9
1641 c CRB128 Cerebrofacial Arteriovenous Metameric Syndrome Type 1 9
1642 MXD041 Mixed Cystic Lymphatic Malformation 9
1643 c LCL023 Localized Dystrophic Epidermolysis Bullosa 9
1644 HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 9
1645 PRT235 Partial Deletion of the Long Arm of Chromosome 14 9
1646 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 9
1647 PRT226 Partial Duplication of Chromosome 16 9
1648 CNG287 Congenital Absence of Both Forearm and Hand 9
1649 JNT005 Joint Formation Defects 9
1650 PRT239 Partial Deletion of the Long Arm of Chromosome 18 9
1651 c MTR065 Maternal Uniparental Disomy of Chromosome 21 9
1652 CNG602 Congenital Anomaly of the Great Arteries 9
1653 PRT146 Partial Deletion of Chromosome 8 8
1654 PRT242 Partial Deletion of the Long Arm of Chromosome 21 8
1655 PHK009 Phakomatosis Cesiomarmorata 8
1656 MTP038 Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 8
1657 PRT197 Partial Duplication of the Long Arm of Chromosome 15 8
1658 PRT217 Partial Duplication of the Short Arm of Chromosome 4 8
1659 c LRY050 Laryngotracheoesophageal Cleft Type 2 8
1660 CHN052 Choanal Atresia, Bilateral 8
1661 CCH012 Cochleovestibular Malformation 8
1662 DGS009 Digestive Tract Malformation 8
1663 c EDR001 Eed-Related Overgrowth 8
1664 c SCL053 Sclerocornea, Autosomal Dominant 8
1665 c CRB127 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 8
1666 c ISL038 Isolated Focal Cortical Dysplasia Type Ib 8
1667 EXT043 External Auditory Canal Aplasia/hypoplasia 8
1668 PRT149 Partial Deletion of Chromosome 7 8
1669 PRT199 Partial Duplication of the Long Arm of Chromosome 13 8
1670 PRT234 Partial Duplication of Chromosome 7 8
1671 PRT174 Partial Deletion of the Long Arm of Chromosome 1 8
1672 PRT223 Partial Duplication of Chromosome 11 8
1673 PRT150 Partial Deletion of the Long Arm of Chromosome 12 8
1674 1P3003 1p35.2 Microdeletion Syndrome 8
1675 PRT176 Partial Deletion of the Long Arm of Chromosome 3 8
1676 PRT219 Partial Duplication of the Short Arm of Chromosome 6 8
1677 ISL023 Isolated Congenital Auditory Ossicle Malformation 8
1678 CNG249 Congenital Pulmonary Venous Return Anomaly 8
1679 PRT192 Partial Duplication of the Long Arm of Chromosome 22 8
1680 12Q001 12q15q21.1 Microdeletion Syndrome 8
1681 c PRT194 Partial Trisomy of the Long Arm of Chromosome 9 8
1682 c KRN003 Kernicterus Due to Isoimmunization 8
1683 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 7
1684 7Q3001 7q31 Microdeletion Syndrome 7
1685 FML352 Familial Scaphocephaly Syndrome 7
1686 NND009 Non-Distal Trisomy 9q 7
1687 LCR016 Lacrimal Drainage System Anomaly 7
1688 TBL020 Tubular Duplication of the Esophagus 7
1689 IDP088 Idiopathic Isolated Micropenis 7
1690 ECS003 Eec Syndrome and Related Disorders 7
1691 HYP850 Hypoglossia/aglossia 7
1692 CNG286 Congenital Absence of Thigh and Lower Leg with Foot Present 7
1693 c PRT170 Partial Monosomy of the Short Arm of Chromosome 17 7
1694 SYN096 Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication 7
1695 CNG610 Congenital Hypoplasia of Thumb 7
1696 PRM160 Premature Closure of the Arterial Duct 7
1697 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
1698 c MTR079 Maternal Uniparental Disomy of Chromosome 13 7
1699 c PTR022 Paternal Uniparental Disomy of Chromosome 7 7
1700 PRT168 Partial Deletion of the Short Arm of Chromosome 16 7
1701 c PTR023 Paternal Uniparental Disomy of Chromosome 13 7
1702 c CNG251 Congenital Pericardium Anomaly 7
1703 c LSS019 Lissencephaly with Cerebellar Hypoplasia Type E 7
1704 PRT147 Partial Deletion of Chromosome 9 7
1705 PRT216 Partial Trisomy of Chromosome 20 7
1706 PRT213 Partial Duplication of Chromosome 19 7
1707 PRT201 Partial Duplication of the Long Arm of Chromosome 3 7
1708 PRT222 Partial Duplication of Chromosome 8 7
1709 c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 6
1710 PRS138 Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium 6
1711 OKH001 Okihiro Syndrome Due to a Point Mutation 6
1712 PRT189 Partial Duplication of the Long Arm of Chromosome 19 6
1713 PRT191 Partial Duplication of the Long Arm of Chromosome 17 6
1714 GST110 Gastroduodenal Malformation 6
1715 c LSS023 Lissencephaly with Cerebellar Hypoplasia Type C 6
1716 CMM026 Common Cystic Lymphatic Malformation 6
1717 CNG345 Congenital Anomaly of Superior Vena Cava 6
1718 ERL041 Early-Onset Zonular Cataract 6
1719 FCL034 Facial Dermoid Cyst 6
1720 LWR011 Lower Lip Fistula 6
1721 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
1722 c CLS057 Celsr1-Related Late-Onset Primary Lymphedema 6
1723 RRT021 Rare Otorhinolaryngological Malformation 6
1724 c TTL014 Total Autosomal Monosomy 6
1725 ISL044 Isolated Arhinencephaly 6
1726 FML194 Familial Clubfoot with or Without Associated Lower Limb Anomalies 6
1727 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
1728 PRT248 Partial Autosomal Trisomy/tetrasomy 6
1729 PRT157 Partial Deletion of Chromosome 19 6
1730 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1731 c RRD061 Rare Disorder with Ptosis 6
1732 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 6
1733 TRM028 Terminal Transverse Limb Defect 6
1734 NNS064 Non-Syndromic Central Nervous System Malformation 5
1735 NSN002 Nose and Cavum Anomaly 5
1736 PRT227 Partial Deletion of the Long Arm of Chromosome 22 5
1737 PRT243 Partial Duplication of the Short Arm of Chromosome 1 5
1738 ISL117 Isolated Congenital Radial Head Dislocation 5
1739 NNS148 Non-Syndromic Unisutural Craniosynostosis 5
1740 CNG353 Congenital Partial Agenesis of Pericardium 5
1741 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
1742 CNG317 Congenital Genu Flexum 5
1743 ABN010 Abnormal Number of Coronary Ostia 5
1744 BCK010 Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion 5
1745 CNG582 Congenital Disorder of Glycosylation with Deafness As a Major Feature 5
1746 FNG012 Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome 5
1747 MLP009 Malposition of a Coronary Ostium 5
1748 KDM002 Kdm3b-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome 5
1749 c KLH006 Klhl7-Related Bohring-Opitz-Like Syndrome 5
1750 SPR109 Supratip Dysplasia 5
1751 STR075 Straddling or Overriding Tricuspid Valve 5
1752 CNG537 Congenital Anomaly of the Tricuspid Valve Chordae 5
1753 P PRM346 Primary Lymphedema Without Systemic or Visceral Involvement 5
1754 LTH049 Lethal Multiple Congenital Anomalies/dysmorphic Syndrome 5
1755 SYN160 Syndromic Intestinal Malformation 5
1756 SYN097 Syndromic Urogenital Tract Malformation 5
1757 RRP026 Rare Palpebral Disorder 5
1758 P YCH005 Y Chromosome Number Anomaly 5
1759 PRT247 Partial Duplication of the Short Arm of Chromosome 19 5
1760 HMZ005 Homozygous 2p21 Microdeletion Syndrome 5
1761 MDN007 Median Cleft Lip/mandibule 5
1762 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 5
1763 PRM134 Primary Laryngeal Lymphangioma 5
1764 ISL130 Isolated Congenital Entropion 5
1765 SYN156 Syndrome with Limb Malformations As a Major Feature 5
1766 NNS062 Non-Syndromic Limb Malformation 5
1767 c XCH002 X Chromosome Number Anomaly 5
1768 NNS142 Non-Syndromic Multisutural Craniosynostosis 5
1769 ISL127 Isolated Blepharochalasis 5
1770 c ISL039 Isolated Focal Cortical Dysplasia Type Ic 5
1771 P ISL048 Isolated Cerebellar Vermis Agenesis 5
1772 SYN144 Syndromic Outer Canthal Malposition 5
1773 CRN313 Corneodysgenesis 5
1774 OVR117 Overgrowth Syndrome with 2q37 Translocation 5
1775 APR011 Aprosencephaly/atelencephaly Spectrum 5
1776 RSP024 Respiratory or Mediastinal Malformation 5
1777 NNS137 Non-Syndromic Pansynostosis 5
1778 NNS104 Non-Syndromic Anorectal Malformation with Rectovesical Fistula 4
1779 STR107 Sterol Biosynthesis Disorder 4
1780 ATR096 Atrioventricular Valve Anomaly 4
1781 VSC061 Vascular Anomaly or Angioma 4
1782 c ATS022 Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract 4
1783 CYS048 Cysts and Fistulae of the Face and Oral Cavity 4
1784 NNS108 Non-Syndromic Anorectal Malformation with Rectourethral Fistula 4
1785 CNG598 Congenital Malformation of the Eye with Glaucoma As a Major Feature 4
1786 DRG019 Drug-Related Renal Tubular Dysgenesis 4
1787 SYN162 Syndromic Esophageal Malformation 4
1788 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
1789 CNG270 Congenital Primary Megaureter, Obstructed Form 4
1790 MCR377 Microblepharon-Ablephara Syndrome 4
1791 CNG331 Congenital Bilateral Megacalycosis 4
1792 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
1793 OTH025 Other Syndrome with Lissencephaly As a Major Feature 4
1794 NNS111 Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Bulbar Type 4
1795 P 46X065 46,xy Disorder of Gonadal Development 4
1796 OVR124 Overgrowth/obesity Syndrome 4
1797 NNS109 Non-Syndromic Anorectal Malformation with Perineal Fistula 4
1798 CNG269 Congenital Primary Megaureter, Refluxing Form 4
1799 c PRM147 Primary Megaureter, Adult-Onset Form 4
1800 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
1801 DPH030 Diaphragmatic or Abdominal Wall Malformation 4
1802 MLF008 Malformation of the Cerebellar Hemispheres 4
1803 SYN147 Syndromic Ankyloblepharon Filiforme Adnatum 4
1804 CNG268 Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form 4
1805 LNS009 Lens Size Anomaly 4
1806 MCR187 Macrodactyly of Fingers, Bilateral 4
1807 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
1808 SYN159 Syndromic Diaphragmatic or Abdominal Wall Malformation 4
1809 SXC005 Sex-Chromosome Number Anomaly 4
1810 EYL007 Eyelid Border Anomaly 4
1811 ORM003 Oromandibular-Limb Anomalies Syndrome 4
1812 HYP178 Hyperthermia Induced Defects 4
1813 SYN161 Syndromic Visceral Malformation 4
1814 NNS053 Non Syndromic Limb Overgrowth 4
1815 CNG316 Congenital Vertical Talus, Bilateral 4
1816 NNS060 Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy 3
1817 CMP099 Complete Hemimelia 3
1818 DYS202 Dysostosis with Limb Anomaly As a Major Feature 3
1819 DYS207 Dysostosis with Brachydactyly Without Extraskeletal Manifestations 3
1820 SYN163 Syndromic Gastroduodenal Malformation 3
1821 TRT023 Teratogenic Pierre Robin Syndrome 3
1822 MSM021 Mesomelic and Rhizo-Mesomelic Dysplasia 3
1823 NNS068 Non-Syndromic Intestinal Malformation 3
1824 SYN130 Syndromic Lacrimal System Disorder 3
1825 NNS098 Non-Syndromic Anorectal Malformation with Rectovaginal Fistula 3
1826 MLF007 Malformation Syndrome with Hamartosis 3
1827 PRR037 Pierre Robin Syndrome Associated with a Chromosomal Anomaly 3
1828 INF180 Infantile Hemangioma of Rare Localization 3
1829 OTH026 Other Syndrome with a Central Nervous System Malformation As a Major Feature 3
1830 NNS051 Non-Syndromic Urogenital Tract Malformation of Male 3
1831 NNS102 Non-Syndromic Anorectal Malformation with Rectal Atresia 3
1832 ISL152 Isolated Congenital Hypoglossia 3
1833 PRR039 Pierre Robin Syndrome Associated with Branchial Archs Anomalies 3
1834 NNS099 Non-Syndromic Anorectal Malformation with H-Type Fistula 3
1835 NNS069 Non-Syndromic Esophageal Malformation 3
1836 PRR036 Pierre Robin Syndrome Associated with Collagen Disease 3
1837 CNT113 Central Nervous System Cystic Malformation 3
1838 NNS105 Non-Syndromic Anorectal Malformation with Vestibular Fistula 3
1839 c 46X067 46,xx Disorder of Gonadal Development 3
1840 TRN077 Transposition of the Great Arteries and Conotruncal Cardiac Anomaly 3
1841 NNS052 Non-Syndromic Urogenital Tract Malformation of Male and Female 2
1842 CHR693 Chromosomal Disease with Overgrowth 2
1843 ISL162 Isolated Female Hypospadias 2
1844 XCH003 X Chromosome Number Anomaly with Female Phenotype 2
1845 SYN107 Syndrome or Malformation Associated with Head and Neck Malformations 2
1846 P TST021 Testicular Germ Cell Tumor 58
1847 c TST046 Testicular Germ Cell Tumor 1 32
1848 UND001 Undifferentiated Embryonal Sarcoma of the Liver 21
1849 c HYD046 Hydatidiform Mole, Recurrent, 1 60
1850 P END039 Endodermal Sinus Tumor 44
1851 P RCR026 Recurrent Hydatidiform Mole 23
1852 c ADL047 Adult Endodermal Sinus Tumor 7
1853 SPR008 Supratentorial Primitive Neuroectodermal Tumor 41
1854 c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 41
1855 MLT178 Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked 38
1856 CNT115 Central Nervous System Embryonal Tumor 24
1857 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 17
1858 c PRS137 Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 11
1859 P HYP086 Hypothyroidism 68
1860 c CNG006 Congenital Hypothyroidism 64
1861 P LFT003 Left Ventricular Noncompaction 55
1862 GRC001 Gracile Syndrome 53
1863 c NML025 Nemaline Myopathy 8 40
1864 P EMB018 Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 39
1865 c LFT017 Left Ventricular Noncompaction 8 29
1866 c LFT021 Left Ventricular Noncompaction 1 29
1867 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 28
1868 c LFT018 Left Ventricular Noncompaction 10 28
1869 c CNT101 Central Congenital Hypothyroidism 26
1870 c LFT020 Left Ventricular Noncompaction 7 20
1871 c PRM316 Primary Congenital Hypothyroidism 19
1872 c LFT011 Left Ventricular Noncompaction 2 19
1873 c TRN047 Transient Congenital Hypothyroidism 16
1874 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
1875 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
1876 c RRH009 Rare Hypothyroidism 12
1877 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 8
1878 CHL048 Childhood Teratocarcinoma of the Testis 6
1879 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 6
1880 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
1881 c HYP232 Hypothyroidism Due to Iodide Transport Defect 5
1882 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
1883 c RRD014 Rare Adult Hypothyroidism 4
1884 P OST002 Osteoporosis 82
1885 PHN003 Phenylketonuria 76
1886 P DMN001 Diamond-Blackfan Anemia 74
1887 BRT054 Brittle Bone Disorder 73
1888 P CRD224 Cardiofaciocutaneous Syndrome 1 70
1889 P TRN020 Turner Syndrome 70
1890 PPL049 Papillon-Lefevre Syndrome 70
1891 CST001 Costello Syndrome 70
1892 c MCL062 Mucolipidosis Ii Alpha/beta 69
1893 BLM001 Bloom Syndrome 66
1894 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 66
1895 ACH004 Achondroplasia 66
1896 P CRN015 Cornelia De Lange Syndrome 66
1897 P CNG001 Congenital Myasthenic Syndrome 65
1898 c CNG012 Congenital Generalized Lipodystrophy 65
1899 c DMN023 Diamond-Blackfan Anemia 1 64
1900 c ANM038 Anemia, Autoimmune Hemolytic 64
1901 P HML002 Hemolytic Anemia 63
1902 P OST001 Osteopetrosis 63
1903 P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 63
1904 PHL006 Phelan-Mcdermid Syndrome 63
1905 c USH036 Usher Syndrome, Type I 63
1906 P USH001 Usher Syndrome 62
1907 c CRN139 Cornelia De Lange Syndrome 1 62
1908 c LYS019 Loeys-Dietz Syndrome 1 62
1909 P BCK002 Beckwith-Wiedemann Syndrome 61
1910 ENC044 Enchondromatosis, Multiple, Ollier Type 61
1911 CRN051 Craniofacial Microsomia 61
1912 c MCP004 Mucopolysaccharidosis Iv 61
1913 DBL002 Double Outlet Right Ventricle 61
1914 P PTT014 Pitt-Hopkins Syndrome 60
1915 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 60
1916 P HMN010 Hemangioma 60
1917 HYP706 Hypermobile Ehlers-Danlos Syndrome 60
1918 RGH009 Right Atrial Isomerism 60
1919 P MCR010 Microcephaly 59
1920 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 59
1921 TTZ003 Tietz Albinism-Deafness Syndrome 59
1922 c LYS021 Loeys-Dietz Syndrome 3 59
1923 c ORF040 Orofaciodigital Syndrome Viii 59
1924 OCC006 Occipital Horn Syndrome 59
1925 DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 59
1926 c LSS005 Lissencephaly 1 59
1927 c SPN330 Spondylocostal Dysostosis 5 58
1928 c CCK008 Cockayne Syndrome a 58
1929 BLR001 Biliary Atresia 58
1930 SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 58
1931 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 57
1932 CRN276 Corneal Endothelial Dystrophy 57
1933 MCR013 Microphthalmia 57
1934 P BRN006 Branchiootorenal Syndrome 57
1935 P CRP023 Carpenter Syndrome 1 57
1936 P JNC001 Junctional Epidermolysis Bullosa 57
1937 P MLT007 Multiple Epiphyseal Dysplasia 57
1938 DNN002 Donnai-Barrow Syndrome 57
1939 c MCP048 Mucopolysaccharidosis, Type Ivb 56
1940 P VSC013 Visceral Heterotaxy 56
1941 P CCH009 Coach Syndrome 1 56
1942 P OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 56
1943 P EPD116 Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia 56
1944 LRN001 Laurence-Moon Syndrome 56
1945 P INT099 Intrahepatic Cholestasis of Pregnancy 56
1946 FCL081 Focal Cortical Dysplasia, Type Ii 56
1947 CMP034 Complete Androgen Insensitivity Syndrome 56
1948 KBG001 Kbg Syndrome 55
1949 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 55
1950 PLC005 Placental Insufficiency 55
1951 c USH037 Usher Syndrome, Type Iia 55
1952 VCS001 Vici Syndrome 55
1953 P MTR003 Mitral Valve Stenosis 55
1954 CNN011 Cenani-Lenz Syndactyly Syndrome 55
1955 OPT054 Opitz-Kaveggia Syndrome 55
1956 c LYS018 Loeys-Dietz Syndrome 2 55
1957 P HYP050 Hyperinsulinemic Hypoglycemia 55
1958 MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55
1959 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 54
1960 c PTT029 Pitt-Hopkins-Like Syndrome 1 54
1961 MGL038 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome 54
1962 c OST164 Osteoporosis, Juvenile 54
1963 c HYD064 Hydrocephalus, Congenital, 1 54
1964 ACR058 Acrofacial Dysostosis 1, Nager Type 54
1965 c ACH041 Achondrogenesis, Type Ii 54
1966 OCL008 Oculopharyngeal Muscular Dystrophy 54
1967 CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 54
1968 c LYS017 Loeys-Dietz Syndrome 4 53
1969 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 53
1970 FRY006 Fryns Microphthalmia Syndrome 53
1971 P MRT010 Martsolf Syndrome 1 53
1972 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 52
1973 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52
1974 P ANN002 Anencephaly 52
1975 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 52
1976 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 52
1977 SCH068 Schwartz-Jampel Syndrome, Type 1 52
1978 CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 52
1979 P DSR090 Disorder of Sexual Development 52
1980 GLY031 Glycoproteinosis 52
1981 c BRC051 Brachydactyly, Type B1 51
1982 c PRM031 Primary Autosomal Recessive Microcephaly 51
1983 PLM041 Pulmonary Valve Stenosis 51
1984 c TRC092 Trichorhinophalangeal Syndrome, Type I 51
1985 P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 51
1986 ACR002 Acrocapitofemoral Dysplasia 51
1987 EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 51
1988 c MCR251 Microphthalmia, Syndromic 6 50
1989 c USH040 Usher Syndrome, Type Id 50
1990 c LYS020 Loeys-Dietz Syndrome 5 50
1991 CNT056 Cantu Syndrome 50
1992 c OST126 Osteopetrosis, Autosomal Recessive 1 50
1993 MLB001 Mulibrey Nanism 50
1994 HYR002 Hoyeraal Hreidarsson Syndrome 50
1995 P VHW001 Vohwinkel Syndrome 50
1996 P HYD033 Hydrolethalus Syndrome 1 50
1997 P ACH011 Achondrogenesis 50
1998 c PSD047 Pseudo-Turner Syndrome 50
1999 WDM004 Wiedemann-Steiner Syndrome 50
2000 P HLL001 Hallermann-Streiff Syndrome 50
2001 GLD006 Goldberg-Shprintzen Syndrome 50
2002 MRS004 Marshall-Smith Syndrome 50
2003 P PRT042 Parietal Foramina 50
2004 P KLF001 Kleefstra Syndrome 49
2005 ACR043 Acromicric Dysplasia 49
2006 c NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 49
2007 c BRC109 Brachydactyly, Type E1 49
2008 P BNM029 Bone Mineral Density Quantitative Trait Locus 15 49
2009 c MCR239 Microcephaly 5, Primary, Autosomal Recessive 49
2010 P ORF001 Orofaciodigital Syndrome 49
2011 P CNG003 Congenital Dyserythropoietic Anemia 48
2012 c USH039 Usher Syndrome, Type Ic 48
2013 c CNG027 Congenital Hemolytic Anemia 48
2014 CRR002 Currarino Syndrome 48
2015 GLC106 Glucocorticoid Resistance, Generalized 48
2016 PLY024 Polymicrogyria 48
2017 P GND004 Gonadal Dysgenesis 48
2018 MCR103 Microtia 48
2019 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 48
2020 OLV001 Olivopontocerebellar Atrophy 48
2021 c VNM003 Van Maldergem Syndrome 1 48
2022 KNG004 King-Denborough Syndrome 48
2023 HYP059 Hypertelorism, Microtia, Facial Clefting Syndrome 48
2024 SPN402 Spinal Muscular Atrophy, X-Linked 2 48
2025 c OST129 Osteopetrosis, Autosomal Recessive 2 48
2026 HYP596 Hypophosphatasia, Childhood 48
2027 c USH020 Usher Syndrome, Type Iic 48
2028 c CRN134 Cornelia De Lange Syndrome 2 47
2029 LBR025 Lobar Holoprosencephaly 47
2030 CHR659 Chromosome 22q11.2 Duplication Syndrome 47
2031 c ANT085 Anterior Segment Dysgenesis 5 47
2032 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
2033 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 47
2034 CHR492 Chromosome 13q14 Deletion Syndrome 47
2035 MLL011 Mullerian Aplasia and Hyperandrogenism 47
2036 CRB147 Cerebellofaciodental Syndrome 47
2037 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47
2038 c OST120 Osteopetrosis, Autosomal Recessive 5 47
2039 WHT019 White-Sutton Syndrome 46
2040 c BRN131 Branchiootorenal Syndrome 1 46
2041 VNS013 Venous Malformations, Multiple Cutaneous and Mucosal 46
2042 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
2043 SHR044 Short Rib-Polydactyly Syndrome 46
2044 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 46
2045 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 46
2046 P ACQ022 Acquired Generalized Lipodystrophy 46
2047 c MCR124 Microphthalmia, Isolated 1 46
2048 P PRX021 Proximal Symphalangism 46
2049 P GLL032 Galloway-Mowat Syndrome 46
2050 c USH041 Usher Syndrome, Type if 45
2051 c MCR247 Microcephaly 1, Primary, Autosomal Recessive 45
2052 CYS002 Cystic Lymphangioma 45
2053 c DMN021 Diamond-Blackfan Anemia 6 45
2054 c PTT030 Pitt-Hopkins-Like Syndrome 2 45
2055 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
2056 c DMN029 Diamond-Blackfan Anemia 11 45
2057 P SPN016 Spondylocostal Dysostosis 45
2058 P HRN001 Horner's Syndrome 44
2059 DYS018 Dysostosis 44
2060 P SYN060 Syndactyly, Type Iii 44
2061 FNT005 Fontaine Progeroid Syndrome 44
2062 MDD010 Middle Ear Disease 44
2063 c USH021 Usher Syndrome, Type Iid 44
2064 DRM021 Dermatopathia Pigmentosa Reticularis 44
2065 SPN030 Spondyloepimetaphyseal Dysplasia, Missouri Type 44
2066 PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 44
2067 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 44
2068 MCR099 Microlissencephaly 44
2069 SPN251 Spondyloenchondrodysplasia with Immune Dysregulation 44
2070 CHR667 Chromosome 3pter-P25 Deletion Syndrome 44
2071 CHR594 Chromosome 3q29 Deletion Syndrome 44
2072 P PLM158 Palmoplantar Keratoderma and Congenital Alopecia 1 44
2073 P ECT005 Ectropion 44
2074 c SYN061 Syndactyly, Type Iv 44
2075 PLC003 Placental Site Trophoblastic Tumor 44
2076 P NNN037 Noonan Syndrome-Like Disorder with Loose Anagen Hair 44
2077 P CMM008 Communicating Hydrocephalus 43
2078 c USH042 Usher Syndrome, Type Ig 43
2079 c ANM080 Anemia, Congenital Dyserythropoietic, Type Iiia 43
2080 c ORF027 Orofacial Cleft 11 43
2081 c MYS052 Myasthenic Syndrome, Congenital, 10 43
2082 CLF028 Cleft Soft Palate 43
2083 c BRC052 Brachydactyly, Type B2 43
2084 EKN001 Eiken Syndrome 43
2085 RBF003 Riboflavin Transporter Deficiency 43
2086 c MCR223 Microcephaly 10, Primary, Autosomal Recessive 43
2087 HML058 Hemolytic Disease of Fetus and Newborn, Rh-Induced 43
2088 c USH044 Usher Syndrome, Type Iiib 42
2089 TRS002 Tarsal-Carpal Coalition Syndrome 42
2090 c DMN006 Diamond-Blackfan Anemia 3 42
2091 c MCR255 Microcephaly 9, Primary, Autosomal Recessive 42
2092 c CRN220 Craniodiaphyseal Dysplasia, Autosomal Dominant 42
2093 P ORF002 Orofacial Cleft 42
2094 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 42
2095 CHR502 Chromosome 17q12 Duplication Syndrome 41
2096 c MCR320 Microcephaly 17, Primary, Autosomal Recessive 41
2097 c BNM022 Bone Mineral Density Quantitative Trait Locus 8 41
2098 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 41
2099 c MYS075 Myasthenic Syndrome, Congenital, 13 41
2100 c MCR137 Microphthalmia, Isolated 2 41
2101 c MYS074 Myasthenic Syndrome, Congenital, 12 41
2102 c MCR122 Microphthalmia, Isolated 5 41
2103 P PLM182 Pulmonary Hypoplasia, Primary 41
2104 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 41
2105 c MYS076 Myasthenic Syndrome, Congenital, 8 41
2106 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 41
2107 KPR003 Keipert Syndrome 41
2108 c EPP012 Epiphyseal Dysplasia, Multiple, 2 41
2109 ACR122 Aica-Ribosuria Due to Atic Deficiency 41
2110 c OST137 Osteopetrosis, Autosomal Recessive 4 41
2111 P CRN013 Craniodiaphyseal Dysplasia 41
2112 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 40
2113 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 40
2114 c CRN209 Cornelia De Lange Syndrome 5 40
2115 c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
2116 c MYS078 Myasthenic Syndrome, Congenital, 14 40
2117 c MCR236 Microcephaly 13, Primary, Autosomal Recessive 40
2118 CHR704 Chromosome 16p11.2 Deletion Syndrome 40
2119 P CRB045 Cerebellar Hypoplasia 40
2120 c DMN017 Diamond-Blackfan Anemia 10 40
2121 P PRM018 Primary Hypertrophic Osteoarthropathy 40
2122 CHR396 Chromosome 2p16.1-P15 Deletion Syndrome 40
2123 FML307 Familial Calcium Pyrophosphate Deposition 40
2124 NNT004 Neonatal Respiratory Failure 39
2125 c PRM212 Primary Microcephaly 39
2126 PRG080 Progressive Non-Infectious Anterior Vertebral Fusion 39
2127 VRH001 Verheij Syndrome 39
2128 PRT049 Partial Deletion of Y 39
2129 RJS001 Ruijs-Aalfs Syndrome 39
2130 AKL001 Au-Kline Syndrome 39
2131 48X003 48,xxyy Syndrome 39
2132 c HTR021 Heterotaxy, Visceral, 5, Autosomal 39
2133 PHC018 Phace Association 39
2134 c PLY149 Polydactyly, Preaxial Iv 39
2135 EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 39
2136 c 46X002 46 Xx Gonadal Dysgenesis 38
2137 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 38
2138 c MCR250 Microcephaly 6, Primary, Autosomal Recessive 38
2139 P OMD003 Omodysplasia 38
2140 c MCR238 Microcephaly 7, Primary, Autosomal Recessive 38
2141 c SCN005 Secondary Hypertrophic Osteoarthropathy 38
2142 c MYS067 Myasthenic Syndrome, Congenital, 22 38
2143 ACH001 Acheiropody 38
2144 ART030 Aortic Arch Interruption 38
2145 PRP093 Pierpont Syndrome 38
2146 CRD221 Cardiospondylocarpofacial Syndrome 38
2147 P ACR106 Acrocephalopolysyndactyly Type Iii 38
2148 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
2149 c DMN020 Diamond-Blackfan Anemia 8 38
2150 CTL005 Catel-Manzke Syndrome 38
2151 c DMN024 Diamond-Blackfan Anemia 7 38
2152 CHR568 Chromosome 6q24-Q25 Deletion Syndrome 37
2153 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 37
2154 PLT007 Palatopharyngeal Incompetence 37
2155 EPD022 Epidermolysis Bullosa Pruriginosa 37
2156 c MCR211 Microphthalmia, Isolated 6 37
2157 c VNM002 Van Maldergem Syndrome 2 37
2158 c ZMM002 Zimmermann-Laband Syndrome 1 37
2159 c EPP009 Epiphyseal Dysplasia, Multiple, 6 37
2160 c SCK029 Seckel Syndrome 7 37
2161 P PRR032 Pura-Related Neurodevelopmental Disorders 37
2162 c MCR314 Microcephaly 16, Primary, Autosomal Recessive 37
2163 c MCR329 Microcephaly, Autosomal Dominant 37
2164 c MCR270 Microcephaly 14, Primary, Autosomal Recessive 37
2165 SPT016 Septopreoptic Holoprosencephaly 37
2166 c FRN033 Frontonasal Dysplasia 2 37
2167 c MCR322 Microcephaly 18, Primary, Autosomal Dominant 37
2168 c PRT059 Parietal Foramina 1 36
2169 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 36
2170 c EPD123 Epidermolysis Bullosa, Junctional 4, Intermediate 36
2171 BCH004 Bachmann-Bupp Syndrome 36
2172 c THN010 Thanatophoric Dysplasia, Type Ii 36
2173 HYP206 Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 36
2174 ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 36
2175 MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 36
2176 P LSS030 Lissencephaly 7 with Cerebellar Hypoplasia 36
2177 LNG040 Langer Mesomelic Dysplasia 36
2178 PLM013 Pulmonary Immaturity 36
2179 c MYS070 Myasthenic Syndrome, Congenital, 19 36
2180 c MCR248 Microcephaly 3, Primary, Autosomal Recessive 36
2181 c MCR109 Microphthalmia, Isolated 4 36
2182 INT585 Intermediate Generalized Junctional Epidermolysis Bullosa 35
2183 c RTH007 Rothmund-Thomson Syndrome, Type 1 35
2184 CHN045 Chondrodysplasia with Joint Dislocations, Gpapp Type 35
2185 OCL033 Oculocerebral Syndrome with Hypopigmentation 35
2186 AMN014 Aminopterin Syndrome Sine Aminopterin 35
2187 c MCR246 Microcephaly 12, Primary, Autosomal Recessive 35
2188 CHR381 Chromosome 17q23.1-Q23.2 Deletion Syndrome 35
2189 48X002 48,xxxy Syndrome 35
2190 HYP674 Hyperostosis Cranialis Interna 35
2191 CHR076 Choriocarcinoma of the Testis 35
2192 c CRD164 Cardiofaciocutaneous Syndrome 3 35
2193 c OST106 Osteopetrosis, Autosomal Recessive 8 34
2194 ODN025 Odontochondrodysplasia 1 34
2195 P MTR080 Mitral Valve Prolapse 1 34
2196 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 34
2197 SLF015 Self-Improving Collodion Baby 34
2198 c MYS064 Myasthenic Syndrome, Congenital, 16 34
2199 PST063 Postsynaptic Congenital Myasthenic Syndromes 34
2200 CYS041 Cystic Angiomatosis of Bone, Diffuse 34
2201 c MCR356 Microcephaly 19, Primary, Autosomal Recessive 34
2202 CHR226 Chromosome 1q41-Q42 Deletion Syndrome 34
2203 c CRP022 Carpenter Syndrome 2 34
2204 c ISL165 Isolated Microphthalmia 3 34
2205 CHR524 Chromosome 16p13.3 Duplication Syndrome 34
2206 c USH031 Usher Syndrome, Type Ij 34
2207 c EPP015 Epiphyseal Dysplasia, Multiple, 3 33
2208 c MCR249 Microcephaly 11, Primary, Autosomal Recessive 33
2209 c BNM015 Bone Mineral Density Quantitative Trait Locus 18 33
2210 c CRD167 Cardiofaciocutaneous Syndrome 4 33
2211 c DMN018 Diamond-Blackfan Anemia 5 33
2212 CBB005 Cobblestone Lissencephaly 33
2213 c VHW003 Vohwinkel Syndrome, Variant Form 33
2214 ACR099 Acrofacial Dysostosis, Catania Type 33
2215 P CHR084 Chromosomal Disease 33
2216 CHR582 Chromosome 3q29 Duplication Syndrome 33
2217 c MYS077 Myasthenic Syndrome, Congenital, 15 33
2218 P MCR364 Macrodactyly 33
2219 c RNG008 Ring Chromosome 13 33
2220 P ZMM001 Zimmermann-Laband Syndrome 33
2221 c MCR254 Microcephaly 4, Primary, Autosomal Recessive 33
2222 SKR001 Skraban-Deardorff Syndrome 33
2223 c CRD163 Cardiofaciocutaneous Syndrome 2 32
2224 XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 32
2225 ALC002 Alcohol-Related Neurodevelopmental Disorder 32
2226 c BNM018 Bone Mineral Density Quantitative Trait Locus 3 32
2227 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 32
2228 c PRT060 Parietal Foramina 2 32
2229 LMB014 Limb-Body Wall Complex 32
2230 NNS061 Non-Syndromic Pontocerebellar Hypoplasia 32
2231 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
2232 P NNT042 Neonatal Lupus Erythematosus 32
2233 c HTR010 Heterotaxy, Visceral, 4, Autosomal 32
2234 c DMN005 Diamond-Blackfan Anemia 2 32
2235 c GLL040 Galloway-Mowat Syndrome 3 32
2236 c DMN049 Diamond-Blackfan Anemia 20 32
2237 c KRT078 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive 32
2238 FMR018 Femoral-Facial Syndrome 31
2239 P BND014 Bone Development Disease 31
2240 LYM122 Lymphangiectasia, Pulmonary, Congenital 31
2241 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 31
2242 MSC021 Mosaic Trisomy 9 31
2243 RCH002 Richards-Rundle Syndrome 31
2244 c ORF048 Orofacial Cleft 1 31
2245 CZC002 Czech Dysplasia 31
2246 P ANG013 Angioma Serpiginosum 31
2247 ALG027 Al-Gazali-Bakalinova Syndrome 31
2248 SHR124 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 31
2249 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 31
2250 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 30
2251 c SYM022 Symphalangism, Proximal, 1a 30
2252 c ANN020 Anencephaly 1 30
2253 P TRC031 Trichorhinophalangeal Syndrome 30
2254 c MYS065 Myasthenic Syndrome, Congenital, 18 30
2255 c VCT004 Vacterl Association with Hydrocephalus 30
2256 MYP163 Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay 30
2257 THR101 Thrombocytopenia, Paris-Trousseau Type 30
2258 BFD002 Bifid Nose with or Without Anorectal and Renal Anomalies 30
2259 CRT069 Cortical Malformations, Occipital 30
2260 c ORF014 Orofacial Cleft 5 30
2261 DFN039 Deafness-Infertility Syndrome 30
2262 c BRN086 Branchiootorenal Syndrome 2 30
2263 INT428 Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type 29
2264 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 29
2265 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 29
2266 STP011 Stapes Ankylosis with Broad Thumbs and Toes 29
2267 FRN022 Frontofacionasal Dysplasia 29
2268 c ORF028 Orofacial Cleft 10 29
2269 GRW039 Growth Retardation, Developmental Delay, and Facial Dysmorphism 29
2270 c DMN022 Diamond-Blackfan Anemia 9 29
2271 CHR248 Chromosome 4p Duplication 29
2272 YNH001 Yuan-Harel-Lupski Syndrome 29
2273 SPN136 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 29
2274 ACR025 Acrocephalopolydactylous Dysplasia 29
2275 XLN232 X-Linked Alport Syndrome-Diffuse Leiomyomatosis 29
2276 c RNG020 Ring Chromosome 4 28
2277 c BFD005 Bifid Nose, Autosomal Recessive 28
2278 FBL014 Fibular Hemimelia 28
2279 P ACR093 Acrofrontofacionasal Dysostosis 28
2280 CHN019 Chand Syndrome 28
2281 CHR399 Chromosome 4q21 Deletion Syndrome 28
2282 P VCT008 Vacterl with Hydrocephalus 28
2283 IDP062 Idiopathic Syringomyelia 28
2284 c CLR136 Ciliary Dyskinesia, Primary, 9 28
2285 CHR219 Chromosome 19q13.11 Deletion Syndrome 28
2286 FTL029 Fetal Thalidomide Syndrome 28
2287 c RNG005 Ring Chromosome 10 28
2288 c USH045 Usher Syndrome, Type Iv 28
2289 MCR326 Microcephaly-Micromelia Syndrome 28
2290 LBN004 Liebenberg Syndrome 28
2291 c DMN019 Diamond-Blackfan Anemia 4 28
2292 OPH015 Ophn1 Syndrome 28
2293 TRG019 Trigonocephaly with Short Stature and Developmental Delay 28
2294 c BLT007 Bilateral Frontal Polymicrogyria 28
2295 c NNT025 Neonatal Systemic Lupus Erythematosus 28
2296 ICH062 Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 28
2297 FTL073 Fetal Anticonvulsant Syndrome 27
2298 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
2299 OCC011 Occipital Encephalocele 27
2300 P VNM004 Van Maldergem Syndrome 27
2301 LPB001 Lipoblastoma 27
2302 c MYS056 Myasthenic Syndrome, Congenital, 17 27
2303 CHR366 Chromosome 5p13 Duplication Syndrome 27
2304 WSM003 Weismann-Netter Syndrome 27
2305 RDL022 Radial Hemimelia 27
2306 APR009 Aprosencephaly Syndrome 27
2307 CRN200 Craniosynostosis and Dental Anomalies 27
2308 KPS005 Kaposiform Lymphangiomatosis 27
2309 FMR017 Femur, Unilateral Bifid, with Monodactylous Ectrodactyly 27
2310 CHR393 Chromosome 19p13.13 Deletion Syndrome 27
2311 CHR252 Chromosome 5p Duplication 26
2312 VGN031 Vaginal Atresia 26
2313 c RNG013 Ring Chromosome 18 26
2314 c HTR020 Heterotaxy, Visceral, 8, Autosomal 26
2315 c MCR219 Microphthalmia, Isolated 8 26
2316 MTP033 Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria 26
2317 HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 26
2318 ACR107 Acrofacial Dysostosis, Palagonia Type 26
2319 c GLL042 Galloway-Mowat Syndrome 5 26
2320 c HTR023 Heterotaxy, Visceral, 6, Autosomal 26
2321 MCR123 Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy 26
2322 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 26
2323 P ZYG003 Zygodactyly 1 26
2324 PGD001 Pagod Syndrome 26
2325 c SYN088 Synpolydactyly 2 26
2326 NNS134 Non-Syndromic Bicoronal Craniosynostosis 26
2327 c MTR077 Mitral Valve Prolapse 2 26
2328 CMD005 Cimdag Syndrome 26
2329 c CHD006 Chd2-Related Neurodevelopmental Disorders 26
2330 CRN268 Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis 26
2331 c EPD124 Epidermolysis Bullosa, Junctional 5a, Intermediate 26
2332 c MCR382 Microcephaly 26, Primary, Autosomal Dominant 25
2333 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
2334 c CHR565 Chromosomal Deletion Syndrome 25
2335 DFF022 Diffuse Neonatal Hemangiomatosis 25
2336 MNT256 Mental Retardation, Buenos Aires Type 25
2337 FCL046 Focal Facial Dermal Dysplasia 4 25
2338 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 25
2339 c ORF046 Orofaciodigital Syndrome Xvi 25
2340 c FRN037 Frontal Encephalocele 25
2341 c ORF025 Orofacial Cleft 6 25
2342 c GLL045 Galloway-Mowat Syndrome 6 25
2343 c ORF023 Orofacial Cleft 4 25
2344 c GLL046 Galloway-Mowat Syndrome 7 25
2345 DFF027 Diffuse Lymphatic Malformation 25
2346 RNL039 Renal Dysplasia-Limb Defects Syndrome 25
2347 P BLT016 Bilateral Polymicrogyria 25
2348 AXL004 Axial Mesodermal Dysplasia Spectrum 25
2349 c BNM016 Bone Mineral Density Quantitative Trait Locus 1 25
2350 c SYM019 Symphalangism, Proximal, 1b 25
2351 ATR053 Atresia of Urethra 25
2352 PRB002 Proboscis Lateralis 25
2353 UNL005 Unilateral Polymicrogyria 25
2354 c CNG455 Congenital Aortopulmonary Window 25
2355 BRN129 Branchial Cleft Anomalies 25
2356 c ORF051 Orofaciodigital Syndrome Xvii 25
2357 c DMN045 Diamond-Blackfan Anemia-Like 25
2358 CHR416 Chromosome 17q Deletion 25
2359 c GLL041 Galloway-Mowat Syndrome 4 25
2360 LRY028 Laryngocele 25
2361 NNG001 Non-Gestational Choriocarcinoma 25
2362 INV022 Inverted Duplicated Chromosome 15 Syndrome 25
2363 c MCR360 Microcephaly 20, Primary, Autosomal Recessive 25
2364 ART037 Arthrogryposis and Ectodermal Dysplasia 24
2365 c LYS031 Loeys-Dietz Syndrome 6 24
2366 IST007 Isotretinoin Embryopathy-Like Syndrome 24
2367 c ORF047 Orofacial Cleft 15 24
2368 c CCH010 Coach Syndrome 2 24
2369 P VTM003 Vitamin Metabolic Disorder 24
2370 OST117 Osteomesopyknosis 24
2371 TTR019 Tetrasomy 5p 24
2372 HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 24
2373 c ORF045 Orofaciodigital Syndrome Xv 24
2374 ATX037 Ataxia-Deafness-Retardation Syndrome 24
2375 c DMN028 Diamond-Blackfan Anemia 12 24
2376 ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 24
2377 c MCR243 Microcephaly 8, Primary, Autosomal Recessive 24
2378 SPL057 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 24
2379 CHR703 Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb 24
2380 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 23
2381 c MYR005 Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 23
2382 ANL024 Anal Atresia, Hypospadias, and Penoscrotal Inversion 23
2383 LWR016 Lowry-Maclean Syndrome 23
2384 c GLL053 Galloway-Mowat Syndrome 10 23
2385 CLV012 Clavicle, Pseudarthrosis of, Congenital 23
2386 c BNM030 Bone Mineral Density Quantitative Trait Locus 16 23
2387 c 46X011 46, Xy Disorders of Sexual Development 23
2388 c MCR361 Microcephaly 21, Primary, Autosomal Recessive 23
2389 c EPP026 Epiphyseal Dysplasia, Multiple, 7 23
2390 c ORF016 Orofacial Cleft 8 23
2391 c CRB209 Cerebellar Malformation 23
2392 c ZMM003 Zimmermann-Laband Syndrome 2 23
2393 CRS011 Criss-Cross Heart 23
2394 P ISL020 Isolated Microphthalmia 23
2395 c CCH011 Coach Syndrome 3 23
2396 PLV015 Pelvis-Shoulder Dysplasia 23
2397 JNT004 Joint Laxity, Short Stature, and Myopia 23
2398 PLY135 Polydactyly, Postaxial, with Progressive Myopia 23
2399 ACR019 Acropectoral Syndrome 23
2400 c GLL047 Galloway-Mowat Syndrome 8 23
2401 BRC020 Brachydactylous Dwarfism Mseleni Type 23
2402 NNG002 Non-Gestational Ovarian Choriocarcinoma 23
2403 c DMN030 Diamond-Blackfan Anemia 13 23
2404 c EPD125 Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia 23
2405 c MRT011 Martsolf Syndrome 2 22
2406 c OST171 Osteopetrosis, Autosomal Dominant 3 22
2407 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 22
2408 c RNG021 Ring Chromosome 5 22
2409 P ART034 Aortopulmonary Window 22
2410 c HRN024 Horner Syndrome, Congenital 22
2411 c ACQ004 Acquired Hemangioma 22
2412 FBR087 Fibromatosis, Gingival, with Distinctive Facies 22
2413 SCH025 Schisis Association 22
2414 CYN002 Cyanosis, Transient Neonatal 22
2415 c HTR029 Heterotaxy, Visceral, 12, Autosomal 22
2416 c PTT042 Pitt-Hopkins-Like Syndrome 22
2417 INT231 Intellectual Disability - Athetosis - Microphthalmia 22
2418 NTH002 Nathalie Syndrome 22
2419 CRT060 Cor Triatriatum Sinister 22
2420 VNT039 Ventriculomegaly and Arthrogryposis 22
2421 P CNG326 Congenital Primary Megaureter 22
2422 c PTN013 Patent Ductus Arteriosus 2 22
2423 XLN085 X-Linked Complicated Spastic Paraplegia Type 1 22
2424 c EPD122 Epidermolysis Bullosa, Junctional 3b, Severe 22
2425 c MCR383 Microcephaly 27, Primary, Autosomal Dominant 22
2426 c RNG012 Ring Chromosome 17 22
2427 CNG260 Congenital Enterovirus Infection 22
2428 c PLY137 Polydactyly, Preaxial Iii 22
2429 UNC015 Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly 22
2430 c MCR362 Microcephaly 22, Primary, Autosomal Recessive 22
2431 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 22
2432 CRN076 Crane-Heise Syndrome 22
2433 FBR101 Fibrous Dysplasia / Mccune-Albright Syndrome 22
2434 c ZMM004 Zimmermann-Laband Syndrome 3 22
2435 CRT061 Cor Triatriatum Dexter 21
2436 c ANG059 Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 21
2437 ATK002 Atkin-Flaitz Syndrome 21
2438 THM006 Thumb Deformity, Alopecia, Pigmentation Anomaly 21
2439 CHR584 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 21
2440 MSM019 Mesomelic Dysplasia, Savarirayan Type 21
2441 c MTR083 Mitral Valve Prolapse 3 21
2442 FTL018 Fetal Indomethacin Syndrome 21
2443 TBT001 Tabatznik Syndrome 21
2444 PLM116 Pulmonary Artery Hypoplasia 21
2445 ACH039 Achalasia-Microcephaly Syndrome 21
2446 c USH030 Usher Syndrome, Type Ik 21
2447 c JVN025 Juvenile Primary Osteoporosis 21
2448 CNG519 Congenital Gerbode Defect 21
2449 PHK008 Phakomatosis Cesioflammea 21
2450 c EPD120 Epidermolysis Bullosa, Junctional 2b, Severe 21
2451 MTC181 Mitochondrial Dna-Related Progressive External Ophthalmoplegia 21
2452 ULN024 Ulnar/fibular Ray Defect and Brachydactyly 21
2453 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 21
2454 FCC003 Faciocardiomelic Dysplasia, Lethal 21
2455 c ORF039 Orofaciodigital Syndrome Vii 21
2456 SYN106 Syndromic Craniosynostosis 21
2457 c MCR372 Microcephaly 25, Primary, Autosomal Recessive 21
2458 TRP024 Triphalangeal Thumbs with Brachyectrodactyly 21
2459 PRN057 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations 20
2460 c DMN040 Diamond-Blackfan Anemia 16 20
2461 7P2001 7p22.1 Microduplication Syndrome 20
2462 PLY050 Polymicrogyria with Optic Nerve Hypoplasia 20
2463 c ACR103 Acrofrontofacionasal Dysostosis 1 20
2464 c LTN015 Late-Onset Junctional Epidermolysis Bullosa 20
2465 c GLL052 Galloway-Mowat Syndrome 9 20
2466 PCH004 Pachygyria, Frontotemporal 20
2467 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 20
2468 PLD002 Pilodental Dysplasia with Refractive Errors 20
2469 c ACR108 Acrocephalopolysyndactyly Type Iv 20
2470 c ORF049 Orofacial Cleft 3 20
2471 CHN067 Chondrodysplasia Punctata, Tibia-Metacarpal Type 20
2472 c ORF050 Orofacial Cleft 2 20
2473 PHV001 Phaver Syndrome 20
2474 MYC060 Mycophenolate Mofetil Embryopathy 20
2475 HMR016 Humeroradioulnar Synostosis 20
2476 c MCR363 Microcephaly 23, Primary, Autosomal Recessive 20
2477 c EPD121 Epidermolysis Bullosa, Junctional 3a, Intermediate 20
2478 c HYD070 Hydrocephalus, Congenital Communicating, 1 20
2479 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 20
2480 c DMN039 Diamond-Blackfan Anemia 17 20
2481 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 20
2482 UNL014 Unilateral Multicystic Dysplastic Kidney 20
2483 21Q001 21q22.11q22.12 Microdeletion Syndrome 20
2484 SCL051 Scalp Defects and Postaxial Polydactyly 20
2485 MCR311 Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome 20
2486 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 20
2487 c ANN021 Anencephaly 2 20
2488 c DMN047 Diamond-Blackfan Anemia 18 20
2489 MCR305 Microcephaly with Cervical Spine Fusion Anomalies 19
2490 CLF042 Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 19
2491 c RNG014 Ring Chromosome 19 19
2492 c EPD119 Epidermolysis Bullosa, Junctional 2a, Intermediate 19
2493 CRV063 Cervical Spina Bifida Aperta 19
2494 PHK006 Phakomatosis Pigmentokeratotica 19
2495 c MCR368 Microcephaly 24, Primary, Autosomal Recessive 19
2496 APH014 Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv 19
2497 ISL154 Isolated Exencephaly 19
2498 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 19
2499 QDR002 Quadricuspid Aortic Valve 19
2500 c MLG144 Malignant Hemangioma 19
2501 19P003 19p13.3 Microduplication Syndrome 19
2502 c MCR391 Microcephaly 29, Primary, Autosomal Recessive 19
2503 MCR303 Macrosomia with Microphthalmia, Lethal 19
2504 NRN022 Neurenteric Cyst 19
2505 CTS042 Cutis Laxa, Neonatal, with Marfanoid Phenotype 19
2506 c MCR108 Microphthalmia, Isolated 7 19
2507 c USH043 Usher Syndrome, Type Ih 19
2508 APH015 Aphalangy with Hemivertebrae 19
2509 CXR001 Coxoauricular Syndrome 19
2510 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 19
2511 CNG609 Congenital Left Ventricular Aneurysm 19
2512 c DMN050 Diamond-Blackfan Anemia 21 19
2513 DFN311 Deafness-Craniofacial Syndrome 18
2514 SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 18
2515 c DMN048 Diamond-Blackfan Anemia 19 18
2516 THR033 Thoracomelic Dysplasia 18
2517 LMB057 Lumbosacral Spina Bifida Aperta 18
2518 c 46X060 46,xx Disorder of Sex Development 18
2519 c CNG578 Congenital Hemangioma 18
2520 SHR023 Short Stature Syndrome, Brussels Type 18
2521 ISL155 Isolated Anencephaly 18
2522 P BMN001 Biemond Syndrome 18
2523 SYM011 Symphalangism with Multiple Anomalies of Hands and Feet 18
2524 c HYD067 Hydatidiform Mole, Recurrent, 3 18
2525 CRN192 Craniorhiny 18
2526 c MLT031 Multiple Epiphyseal Dysplasia, Recessive 18
2527 TRG007 Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 18
2528 c TTL009 Total Spina Bifida Aperta 18
2529 THY105 Thyrocerebroretinal Syndrome 18
2530 c USH046 Usher Syndrome, Type 1m 18
2531 CRL002 Curly Hair-Acral Keratoderma-Caries Syndrome 18
2532 c INT498 Intellectual Developmental Disorder, X-Linked, Syndromic 9 18
2533 c MCR386 Microcephaly 28, Primary, Autosomal Recessive 18
2534 DYS049 Dysplastic Cortical Hyperostosis 18
2535 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 18
2536 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 18
2537 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 18
2538 CRV061 Cervicothoracic Spina Bifida Cystica 18
2539 THR084 Thoracolumbosacral Spina Bifida Cystica 18
2540 THR085 Thoracolumbosacral Spina Bifida Aperta 18
2541 TTR010 Tetramelic Monodactyly 18
2542 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
2543 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 18
2544 c HYD068 Hydatidiform Mole, Recurrent, 4 18
2545 ECT087 Ectodermal Dysplasia, Trichoodontoonychial Type 18
2546 MLT144 Multiple Epiphyseal Dysplasia with Robin Phenotype 18
2547 3P2001 3p25.3 Microdeletion Syndrome 18
2548 INF155 Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome 17
2549 MCR042 Microbrachycephaly Ptosis Cleft Lip 17
2550 ACT206 Acitretin/etretinate Embryopathy 17
2551 ATR084 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 17
2552 ESS005 Essential Iris Atrophy 17
2553 CMP077 Composite Hemangioendothelioma 17
2554 ISL133 Isolated Epispadias 17
2555 CNG330 Congenital Megacalycosis 17
2556 RTF001 Retiform Hemangioendothelioma 17
2557 c SYN040 Synpolydactyly 3 17
2558 c ORF031 Orofacial Cleft 14 17
2559 PLM045 Palmer Pagon Syndrome 17
2560 c SX2003 Six2-Related Frontonasal Dysplasia 17
2561 P CNG600 Congenital Arteriovenous Fistula 17
2562 ART091 Aorto-Ventricular Tunnel 17
2563 c CNG621 Congenital Myasthenic Syndrome 7 17
2564 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 17
2565 HYD055 Hydroxylysinuria 17
2566 RDL029 Radial Ray Hypoplasia with Choanal Atresia 17
2567 c BNM031 Bone Mineral Density Quantitative Trait Locus 17 17
2568 c ANM081 Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive 17
2569 CRY037 Cryptophthalmia 17
2570 DST082 Distal Trisomy 10q 17
2571 MRF015 Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome 17
2572 AZY001 Azygos Continuation of the Inferior Vena Cava 17
2573 MRF018 Marfanoid Habitus with Microcephaly and Glomerulonephritis 17
2574 WHT022 White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrom 17
2575 c CNT108 Central Polydactyly 17
2576 VNB001 Van Benthem-Driessen-Hanveld Syndrome 17
2577 ODN008 Odontomicronychial Dysplasia 17
2578 CRN258 Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome 17
2579 FRS011 First Branchial Cleft Anomaly 17
2580 LNG102 Long-Thumb Brachydactyly Syndrome 17
2581 SPN351 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 16
2582 PLY086 Polyrrhinia 16
2583 c GRN052 Grin2b-Related Neurodevelopmental Disorder 16
2584 HLL014 Hallux Varus and Preaxial Polysyndactyly 16
2585 ANR045 Aneurysm of Interventricular Septum 16
2586 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
2587 c ANG028 Angioma Serpiginosum, Autosomal Dominant 16
2588 CRN101 Craniosynostosis Philadelphia Type 16
2589 ECT016 Ectodermal Dysplasia Blindness 16
2590 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 16
2591 c JVN036 Juvenile Sialidosis Type 2 16
2592 ALG003 Al Gazali Aziz Salem Syndrome 16
2593 FXG002 Foxg1 Syndrome Due to 14q12 Microdeletion 16
2594 c PRT113 Parietal Foramina 3 16
2595 c PPP004 Ppp2r1a-Related Neurodevelopmental Disorder 16
2596 THR030 Thoraco Abdominal Enteric Duplication 16
2597 SPN346 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 16
2598 ERL040 Early-Onset Sutural Cataract 16
2599 DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 16
2600 HLL006 Halal Setton Wang Syndrome 16
2601 16P011 16p12.1p12.3 Triplication Syndrome 15
2602 BNK001 Banki Syndrome 15
2603 CMP079 Complete Septate Uterus 15
2604 APL011 Aplasia Cutis Myopia 15
2605 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 15
2606 SLV016 Silver-Russell Syndrome Due to 7p11.2p13 Microduplication 15
2607 CLF033 Cleft Mitral Valve 15
2608 TTH023 Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum 15
2609 c RRD018 Rare Disease with Pierre Robin Syndrome 15
2610 c ORF029 Orofacial Cleft 13 15
2611 ANM076 Anomalous Aortic Origin of the Right Coronary Artery 15
2612 BTT012 Battaglia-Neri Syndrome 15
2613 IDP017 Idiopathic Dilatation of the Pulmonary Artery 15
2614 PHL009 Phalangeal Microgeodic Syndrome 15
2615 ACR027 Acrodysplasia Scoliosis 15
2616 LRY030 Larynx Atresia 15
2617 c ANG058 Angelman Syndrome Due to a Point Mutation 15
2618 EXS015 Exostoses with Anetodermia and Brachydactyly, Type E 15
2619 NGH023 Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome 15
2620 c SCN087 Scn3a-Related Neurodevelopmental Disorder 15
2621 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 14
2622 THM018 Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome 14
2623 ACC011 Accessory Mitral Valve Tissue 14
2624 11P002 11p15.4 Microduplication Syndrome 14
2625 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
2626 CMP022 Camptodactyly Taurinuria 14
2627 BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 14
2628 CMP098 Complex Vascular Malformation with Associated Anomalies 14
2629 CRN271 Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 14
2630 SCL050 Scoliosis, Arachnodactyly, and Blindness 14
2631 PCH017 Pachygyria-Intellectual Disability-Epilepsy Syndrome 14
2632 c ATS448 Autosomal Recessive Brachyolmia 14
2633 c GLL043 Galloway-Mowat Syndrome 2 14
2634 ETH013 Euthyroid Graves Orbitopathy 14
2635 KLM001 Klumpke Paralysis 14
2636 c CLC009 Clcn7-Related Osteopetrosis 14
2637 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 14
2638 NND004 Non-Distal Monosomy 10q 14
2639 MDR001 Medeira-Dennis-Donnai Syndrome 14
2640 ANM075 Anomalous Aortic Origin of Coronary Artery 14
2641 CDL001 Caudal Appendage Deafness 14
2642 ANM077 Anomalous Aortic Origin of the Left Coronary Artery 14
2643 MCR285 Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 14
2644 c ORF020 Orofacial Cleft 12 14
2645 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
2646 SPN464 Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome 13
2647 c RRC022 Rare Chromosomal Anomaly 13
2648 c ORF054 Orofaciodigital Syndrome Xix 13
2649 MCR367 Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome 13
2650 EPP018 Epiphyseal Dysplasia, Multiple, with Miniepiphyses 13
2651 c PLM183 Pulmonary Hypoplasia, Familial Primary 13
2652 c MCR185 Macrodactyly of Toes 13
2653 MSC090 Mosaic Trisomy 3 13
2654 OST114 Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome 13
2655 c ORF024 Orofacial Cleft 9 13
2656 DNN007 Duane Anomaly-Myopathy-Scoliosis Syndrome 13
2657 c SYN050 Syndactyly Type 6 13
2658 TRC057 Trichoodontoonychial Dysplasia 13
2659 ISL111 Isolated Arrhinia 13
2660 XLN145 X-Linked Intellectual Disability, Pai Type 13
2661 PRT087 Parietal Encephalocele 13
2662 ART097 Aorto-Left Ventricular Tunnel 13
2663 APD003 Apodia 13
2664 c CNG253 Congenital Communicating Hydrocephalus 12
2665 MGC005 Megacystis-Megaureter Syndrome 12
2666 MCR357 Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome 12
2667 HLP030 Holoprosencephaly-Caudal Dysgenesis Syndrome 12
2668 CRP029 Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome 12
2669 MLH001 Melhem Fahl Syndrome 12
2670 LWR014 Lower Limb Hypertrophy 12
2671 XLN156 X-Linked Intellectual Disability, Golabi-Ito-Hall Type 12
2672 c DSR027 Disorders of Vitamin D Metabolism 12
2673 INT227 Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome 12
2674 c HML041 Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction 12
2675 THN011 Thin Ribs-Tubular Bones-Dysmorphism Syndrome 12
2676 PRT111 Partial Septate Uterus 12
2677 c RRH032 Rare Hemolytic Anemia 12
2678 P ISL045 Isolated Focal Cortical Dysplasia Type I 12
2679 c BNM021 Bone Mineral Density Quantitative Trait Locus 7 12
2680 ISL056 Isolated Lissencephaly Type 1 Without Known Genetic Defects 11
2681 c ZYG007 Zygodactyly Type 3 11
2682 PTS015 Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome 11
2683 SVR086 Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia 11
2684 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
2685 c BRN138 Branchiootorenal Spectrum Disorder 11
2686 CNG535 Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome 11
2687 c CNG405 Congenital Pulmonary Airway Malformation Type 4 11
2688 c GNB002 Gnb5-Related Neurodevelopmental Disorder 11
2689 c MLT142 Multiple Epiphyseal Dysplasia, Autosomal Dominant 11
2690 CNG278 Congenital Pseudoarthrosis of the Radius 11
2691 FML329 Familial Caudal Dysgenesis 11
2692 HYP489 Hypotrichosis-Deafness Syndrome 11
2693 P BFD004 Bifid Nose, Autosomal Dominant 11
2694 SBC038 Sub-Cortical Nodular Heterotopia 11
2695 c HNR003 Hnrnpu-Related Neurodevelopmental Disorder 11
2696 HMR042 Humero-Ulnar Synostosis 11
2697 LCL024 Localized Dystrophic Epidermolysis Bullosa, Nails Only 11
2698 HYP852 Hypocalcemic Rickets 11
2699 DGS007 Digestive Duplication 11
2700 c ISL040 Isolated Focal Cortical Dysplasia Type Ia 10
2701 CNG283 Congenital Pseudoarthrosis of the Femur 10
2702 c ZYG005 Zygodactyly Type 4 10
2703 c GRN056 Grin1-Related Neurodevelopmental Disorder 10
2704 TBF001 Tibio-Fibular Synostosis 10
2705 XLN147 X-Linked Intellectual Disability, Stoll Type 10
2706 c HNR004 Hnrnph2-Related Neurodevelopmental Disorder 10
2707 c ATN031 Atn1-Related Neurodevelopmental Disorder 10
2708 XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 10
2709 c DDX004 Ddx3x-Related Neurodevelopmental Disorder 10
2710 MXL013 Maxillary Arteriovenous Malformation 10
2711 16Q002 16q24.1 Microdeletion Syndrome 10
2712 TRG018 Trigonocephaly-Broad Thumbs Syndrome 10
2713 DST084 Distal Trisomy 8q 10
2714 DVL026 Developmental Defect of the Eye 10
2715 FBL017 Fibular Dimelia-Diplopodia Syndrome 10
2716 NNS059 Non-Syndromic Limb Reduction Defect 10
2717 PLR014 Pleuro-Pericardial Cyst 10
2718 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 10
2719 c BNM026 Bone Mineral Density Quantitative Trait Locus 12 10
2720 MLT171 Multiple Epiphyseal Dysplasia and Pseudoachondroplasia 9
2721 c ACQ029 Acquired Porencephaly 9
2722 c STD003 Setd1b-Related Neurodevelopmental Disorder 9
2723 ISL064 Isolated Ankyloblepharon Filiforme Adnatum 9
2724 CNG359 Congenitally Uncorrected Transposition of the Great Arteries with Coarctation 9
2725 c BNM017 Bone Mineral Density Quantitative Trait Locus 2 9
2726 GST021 Gestational Uterine Corpus Choriocarcinoma 9
2727 NNR005 Non-Rhizomelic Chondrodysplasia Punctata 9
2728 ISL058 Isolated Anencephaly/exencephaly 9
2729 TRF003 Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome 9
2730 ART161 Aortic Malformation 9
2731 c BNM024 Bone Mineral Density Quantitative Trait Locus 10 9
2732 ISL050 Isolated Dandy-Walker Malformation with Hydrocephalus 9
2733 NNS146 Non-Syndromic Unicoronal Craniosynostosis 9
2734 ISL028 Isolated Cerebellar Vermis Hypoplasia 9
2735 c PPP002 Ppp2r5d-Related Neurodevelopmental Disorder 9
2736 c LRP007 Lrp5-Related Primary Osteoporosis 9
2737 ISL022 Isolated Congenital Nasal Pyriform Aperture Stenosis 9
2738 OKH002 Okihiro Syndrome Due to 20q13 Microdeletion 8
2739 CNG334 Congenital Esophageal Diverticulum 8
2740 c LRY051 Laryngotracheoesophageal Cleft Type 1 8
2741 c BNM028 Bone Mineral Density Quantitative Trait Locus 14 8
2742 c BNM027 Bone Mineral Density Quantitative Trait Locus 13 8
2743 CNG290 Congenital Absence of Both Lower Leg and Foot 8
2744 c BNM019 Bone Mineral Density Quantitative Trait Locus 5 8
2745 c BNM023 Bone Mineral Density Quantitative Trait Locus 9 8
2746 CRN073 Coronary Arteries Congenital Malformation 8
2747 SBR010 Subaortic Course of Innominate Vein 8
2748 ISL047 Isolated Unilateral Hemispheric Cerebellar Hypoplasia 8
2749 c RRB006 Rare Bone Development Disorder 8
2750 NNS054 Non-Syndromic Postaxial Polydactyly 8
2751 SYN127 Syndromic Ectopia Lentis 8
2752 CMM016 Commissural Lip Fistula 7
2753 c BNM020 Bone Mineral Density Quantitative Trait Locus 6 7
2754 2P1003 2p13.2 Microdeletion Syndrome 7
2755 c BNM014 Bone Mineral Density Quantitative Trait Locus 4 7
2756 c BNM025 Bone Mineral Density Quantitative Trait Locus 11 7
2757 CNG583 Congenital Urachal Anomaly 7
2758 PRM335 Primary Bone Dysplasia with Multiple Joint Dislocations 7
2759 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 7
2760 NNS055 Non-Syndromic Preaxial Polydactyly 7
2761 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
2762 ECT057 Ectasia of the Right Atrial Appendage 7
2763 DYS208 Dysostosis with Brachydactyly 7
2764 EPH004 Ephb4-Related Lymphatic-Related Hydrops Fetalis 7
2765 ISL034 Isolated Megalencephaly 7
2766 FTL049 Fetal Carbamazepine Syndrome 7
2767 4Q2002 4q25 Proximal Deletion Syndrome 7
2768 CNG107 Congenital Mitral Malformation 7
2769 PRN015 Perinatal Intestinal Perforation 7
2770 c RRC006 Rare Acquired Hemolytic Anemia 7
2771 c HML055 Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder 7
2772 ISL079 Isolated Encephalocele 7
2773 c LSS018 Lissencephaly with Cerebellar Hypoplasia Type F 7
2774 c LSS021 Lissencephaly with Cerebellar Hypoplasia Type a 7
2775 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 7
2776 PRM320 Primary Bone Dysplasia with Micromelia 7
2777 DZX004<