|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
5
|
(HPO:0001003)
|
Multiple lentigines |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0001054)
|
Numerous nevi |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
10
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
11
|
(HPO:0001633)
|
Abnormality of the mitral valve |
|
|
|
|
69 / 7739
|
|
12
|
(HPO:0001646)
|
Abnormality of the aortic valve |
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0007565)
|
Multiple cafe-au-lait spots |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
16
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
17
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
18
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
|
19
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
20
|
(HPO:0002212)
|
Curly hair |
rare [HPO:skoehler]
|
|
|
|
21 / 7739
|
|
21
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
24
|
(HPO:0100543)
|
Cognitive impairment |
rare [HPO:skoehler]
|
|
|
|
230 / 7739
|