|
1
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
3
|
(HPO:0011276)
|
Vascular skin abnormality |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
7
|
(HPO:0001004)
|
Lymphedema |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0001640)
|
Cardiomegaly |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
10
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
11
|
(HPO:0000360)
|
Tinnitus |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0000214)
|
Lip telangiectasia |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
14
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
15
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
16
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
17
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
18
|
(HPO:0001071)
|
Angiokeratoma corporis diffusum |
|
|
|
|
7 / 7739
|
|
19
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
20
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
21
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
|
22
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
23
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
24
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
25
|
(HPO:0003409)
|
Distal sensory impairment of all modalities |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0003461)
|
Increased urinary O-linked sialopeptides |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0006812)
|
White mater abnormalities in the posterior periventricular region |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0007428)
|
Telangiectasia of the oral mucosa |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Meniere syndrome |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Conjunctiva shows dilated blood vessels |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Fundi show dilated blood vessels with corkscrew-like tortuosity |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Enlarged nasal tip |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
34
|
(OMIM)
|
Maculopapular eruption, diffuse |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Telangiectasia on lips and oral mucosa |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Intellectual impairment, mild |
|
|
|
|
3 / 7739
|
|
37
|
(OMIM)
|
MRI may show atrophy of the cerebrum |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Sural nerve biopsy shows decreased density of myelinated fibers and axonal degeneration |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Decreased or absent alpha-N-acetylgalactosaminidase protein |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Decreased or absent alpha-N-acetylgalactosaminidase activity |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Diverse tissue cell types (vascular endothelial cells, adipocytes, Schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Glycoamino aciduria |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
44
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
46
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
47
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
48
|
(HPO:0040078)
|
Axonal degeneration |
|
|
|
|
10 / 7739
|
|
49
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|