|
1
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
3
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
4
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
5
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0000492)
|
Abnormality of the eyelid |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
12
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
13
|
(HPO:0012472)
|
Eclabion |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|