|
1
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
6
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
8
|
(HPO:0001029)
|
Poikiloderma |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
9
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
13
|
(HPO:0002621)
|
Atherosclerosis |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
16
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0008069)
|
Neoplasm of the skin |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
18
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
19
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
20
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
23
|
(HPO:0000491)
|
Keratitis |
|
|
|
|
21 / 7739
|
|
24
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
25
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
26
|
(HPO:0000621)
|
Entropion |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
28
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
29
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
30
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
31
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
32
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
33
|
(HPO:0003079)
|
Defective DNA repair after ultraviolet radiation damage |
|
|
|
|
9 / 7739
|
|
34
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|