|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001025)
|
Urticaria |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
12
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
13
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
14
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
15
|
(HPO:0000488)
|
Retinopathy |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
17
|
(HPO:0000608)
|
Macular degeneration |
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
19
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
23
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
24
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
25
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
26
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
27
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
|
28
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
29
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
30
|
(HPO:0007727)
|
Opacification of the corneal epithelium |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
32
|
(OMIM)
|
Glistening white dots in fundus |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Palm thickening |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Sole thickening |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Pruritic ichthyosis (onset birth to first several months) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Normal nails |
|
|
|
|
15 / 7739
|
|
37
|
(OMIM)
|
Normal hair |
|
|
|
|
7 / 7739
|
|
38
|
(OMIM)
|
Fatty alcohol:NAD+ oxidoreductase deficiency in leukocytes and fibroblasts |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|