|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
4
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
5
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000292)
|
Loss of facial adipose tissue |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
9
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
11
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
12
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
13
|
(HPO:0000417)
|
Slender nose |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
15
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
17
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
18
|
(HPO:0000633)
|
Decreased lacrimation |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
20
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
21
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
|
|
34 / 7739
|
|
22
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
23
|
(HPO:0000680)
|
Delayed eruption of primary teeth |
|
|
|
|
10 / 7739
|
|
24
|
(HPO:0000685)
|
Hypoplasia of teeth |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
26
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
27
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
28
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
29
|
(HPO:0000858)
|
Menstrual irregularities |
|
|
|
|
42 / 7739
|
|
30
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
31
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
|
32
|
(HPO:0000987)
|
Atypical scarring of skin |
|
|
|
|
58 / 7739
|
|
33
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
34
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
35
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
36
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
37
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
38
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
39
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
40
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
41
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
42
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
43
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
|
44
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
45
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
46
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
47
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
48
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
49
|
(HPO:0002343)
|
Normal pressure hydrocephalus |
|
|
|
|
6 / 7739
|
|
50
|
(HPO:0002545)
|
Patchy demyelination of subcortical white matter |
|
|
|
|
3 / 7739
|
|
51
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
52
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
53
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
54
|
(HPO:0003224)
|
Increased cellular sensitivity to UV light |
|
|
|
|
8 / 7739
|
|
55
|
(HPO:0003278)
|
Square pelvis bone |
|
|
|
|
3 / 7739
|
|
56
|
(HPO:0003357)
|
Thymic hormone decreased |
|
|
|
|
2 / 7739
|
|
57
|
(HPO:0003469)
|
Peripheral dysmyelination |
|
|
|
|
3 / 7739
|
|
58
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
59
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
|
|
13 / 7739
|
|
60
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
|
61
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
62
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
63
|
(HPO:0007814)
|
Retinal pigment epithelial mottling |
|
|
|
|
5 / 7739
|
|
64
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
65
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
|
66
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
67
|
(HPO:0010234)
|
Ivory epiphyses of the phalanges of the hand |
|
|
|
|
3 / 7739
|
|
68
|
(HPO:0011359)
|
Dry hair |
|
|
|
|
16 / 7739
|
|
69
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
70
|
(OMIM)
|
Cachectic dwarfism |
|
|
|
|
2 / 7739
|
|
71
|
(OMIM)
|
Absent/hypoplastic teeth |
|
|
|
|
2 / 7739
|
|
72
|
(OMIM)
|
Vertebral body abnormalities |
|
|
|
|
3 / 7739
|
|
73
|
(OMIM)
|
Small, squared off pelvis |
|
|
|
|
2 / 7739
|
|
74
|
(OMIM)
|
Mild to moderate joint limitation |
|
|
|
|
2 / 7739
|
|
75
|
(HPO:0007495)
|
Prematurely aged appearance |
|
|
|
|
44 / 7739
|
|
76
|
(HPO:0100699)
|
Scarring |
|
|
|
|
9 / 7739
|
|
77
|
(MedDRA:10003694)
|
Atrophy |
|
|
|
|
7 / 7739
|
|
78
|
(OMIM)
|
Thin, dry hair |
|
|
|
|
2 / 7739
|
|
79
|
(MedDRA:10067601)
|
Dysmyelination |
|
|
|
|
5 / 7739
|
|
80
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
81
|
(OMIM)
|
Irregular menstrual cycles |
|
|
|
|
1 / 7739
|
|
82
|
(OMIM)
|
At least 2 complementation groups |
|
|
|
|
2 / 7739
|
|
83
|
(OMIM)
|
Abnormal myelination in sural nerve biopsies |
|
|
|
|
3 / 7739
|
|
84
|
(OMIM)
|
Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination |
|
|
|
|
3 / 7739
|
|
85
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|