|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0002216)
|
Premature graying of hair |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
4
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0005599)
|
Hypopigmentation of hair |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
8
|
(HPO:0005214)
|
Intestinal obstruction |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
12
|
(HPO:0100684)
|
Salivary gland neoplasm |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
14
|
(HPO:0001100)
|
Heterochromia iridis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
16
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
17
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
18
|
(HPO:0000506)
|
Telecanthus |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
20
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
21
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
22
|
(HPO:0002251)
|
Aganglionic megacolon |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
24
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
25
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
26
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
27
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
28
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
29
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
30
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
31
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
32
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
33
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
|
34
|
(HPO:0000522)
|
Alacrima |
|
|
|
|
14 / 7739
|
|
35
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
36
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
37
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
38
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
39
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
40
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
|
41
|
(HPO:0002226)
|
White eyebrow |
|
|
|
|
10 / 7739
|
|
42
|
(HPO:0002227)
|
White eyelashes |
|
|
|
|
11 / 7739
|
|
43
|
(HPO:0002271)
|
Autonomic dysregulation |
|
|
|
|
11 / 7739
|
|
44
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
45
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
46
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
47
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
48
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
49
|
(HPO:0004336)
|
Myelin outfoldings |
|
|
|
|
4 / 7739
|
|
50
|
(HPO:0004463)
|
Absent brainstem auditory responses |
|
|
|
|
2 / 7739
|
|
51
|
(HPO:0006978)
|
Dysmyelinating leukodystrophy |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0007108)
|
Demyelinating peripheral neuropathy |
|
|
|
|
8 / 7739
|
|
53
|
(HPO:0007182)
|
Peripheral hypomyelination |
|
|
|
|
7 / 7739
|
|
54
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
|
55
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
56
|
(HPO:0011285)
|
Long-segment aganglionic megacolon |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0011382)
|
Hypoplasia of the semicircular canal |
|
|
|
|
2 / 7739
|
|
58
|
(OMIM)
|
Bright blue eyes |
|
|
|
|
3 / 7739
|
|
59
|
(OMIM)
|
Hirschsprung disease, long-segment |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Decreased myenteric and submucosal ganglia in the bowel |
|
|
|
|
4 / 7739
|
|
61
|
(OMIM)
|
Intestinal aganglionosis |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Chronic intestinal pseudoobstruction |
|
|
|
|
4 / 7739
|
|
63
|
(OMIM)
|
Vestibular malformation seen on temporal bone CT (in some patients) |
|
|
|
|
1 / 7739
|
|
64
|
(MedDRA:10067601)
|
Dysmyelination |
|
|
|
|
5 / 7739
|
|
65
|
(OMIM)
|
Distal muscle wasting due to peripheral neuropathy |
|
|
|
|
2 / 7739
|
|
66
|
(OMIM)
|
Distal muscle weakness due to peripheral neuropathy |
|
|
|
|
4 / 7739
|
|
67
|
(OMIM)
|
Sural nerve biopsy shows hypomyelination/demyelination |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
Sural nerve biopsy shows excessive focal folding of myelin sheaths |
|
|
|
|
1 / 7739
|
|
69
|
(HPO:0012851)
|
Colonic stenosis |
Frequent [Orphanet]
|
|
|
|
3 / 7739
|
|
70
|
(HPO:0002803)
|
Congenital contracture |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
71
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
72
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
73
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
74
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|