|
1
|
(HPO:0002208)
|
Coarse hair |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
2
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
3
|
(HPO:0002299)
|
Brittle hair |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
6
|
(HPO:0011302)
|
Long palm |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
7
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
8
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
9
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
13
|
(HPO:0002943)
|
Thoracic scoliosis |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0007529)
|
Hidrotic ectodermal dysplasia |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
16
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
17
|
(OMIM)
|
Fifth finger contractures |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|