|
1
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
5
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
9
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
10
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
11
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
12
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
14
|
(HPO:0001873)
|
Thrombocytopenia |
rare [HPO:skoehler]
|
|
|
|
224 / 7739
|
|
15
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
16
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
17
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
19
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
|
20
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
21
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
22
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
23
|
(HPO:0002584)
|
Intestinal bleeding |
|
|
|
|
16 / 7739
|
|
24
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
25
|
(HPO:0002745)
|
Oral leukoplakia |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
27
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
29
|
(HPO:0004979)
|
Metaphyseal sclerosis |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0005528)
|
Bone marrow hypocellularity |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
31
|
(HPO:0007763)
|
Retinal telangiectasia |
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0007898)
|
Exudative retinopathy |
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
34
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
35
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
36
|
(OMIM)
|
Coats disease |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Retinal angioma |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Small vessel microangiopathy |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Telangiectatic mucosal blood vessels |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Lytic lesions |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Low trabecular bone volume see on bone biopsy |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Reduced osteoclasts and osteoblasts |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
|
44
|
(OMIM)
|
Pigmentary abnormalities |
|
|
|
|
3 / 7739
|
|
45
|
(OMIM)
|
Graying hair |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
47
|
(OMIM)
|
Intracerebral cysts |
|
|
|
|
4 / 7739
|
|
48
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
49
|
(OMIM)
|
Shortened telomeres |
|
|
|
|
9 / 7739
|
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
51
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
52
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
53
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|