1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
3
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
4
|
(HPO:0000492)
|
Abnormality of the eyelid |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
5
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
6
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
7
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
8
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
9
|
(HPO:0001944)
|
Dehydration |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
10
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
11
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
12
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
13
|
(HPO:0011039)
|
Abnormality of the helix |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
14
|
(HPO:0100679)
|
Lack of skin elasticity |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
15
|
(HPO:0100758)
|
Gangrene |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
16
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
17
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
18
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
19
|
(HPO:0000389)
|
Chronic otitis media |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
20
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
21
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
24
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|