|
1
|
(HPO:0000453)
|
Choanal atresia |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
2
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
5
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
8
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
9
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
10
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
16
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
17
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
18
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
19
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
20
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
21
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
22
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
26
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
27
|
(HPO:0000475)
|
Broad neck |
|
|
|
|
12 / 7739
|
|
28
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
29
|
(HPO:0000588)
|
Optic nerve coloboma |
|
|
|
|
27 / 7739
|
|
30
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
31
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
32
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
35
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|