|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000096)
|
Glomerulosclerosis |
|
|
|
|
11 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
7
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
8
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
9
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
12
|
(HPO:0000987)
|
Atypical scarring of skin |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
14
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
16
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
17
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
18
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
19
|
(HPO:0002343)
|
Normal pressure hydrocephalus |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
21
|
(HPO:0002621)
|
Atherosclerosis |
|
|
|
|
33 / 7739
|
|
22
|
(HPO:0003130)
|
Abnormal peripheral myelination |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0003357)
|
Thymic hormone decreased |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
25
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
26
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0007495)
|
Prematurely aged appearance |
|
|
|
|
44 / 7739
|
|
28
|
(HPO:0007814)
|
Retinal pigment epithelial mottling |
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0011400)
|
Abnormal CNS myelination |
|
|
|
|
10 / 7739
|
|
30
|
(OMIM)
|
Mandible:Prognathism |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Marble epiphyses in some digits |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Disproportionately long limbs |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Large hands and feet |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
'Hollow', sunken eye appearance |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Poor lid closure |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Corneal desiccation |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
At least 2 complementation groups |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Abnormal myelination in sural nerve biopsies |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination |
|
|
|
|
3 / 7739
|
|
40
|
(OMIM)
|
Sensitivity to sunlight |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0100699)
|
Scarring |
|
|
|
|
9 / 7739
|
|
42
|
(MedDRA:10003694)
|
Atrophy |
|
|
|
|
7 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|