|
1
|
(HPO:0002410)
|
Aqueductal stenosis |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000262)
|
Turricephaly |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
|
5
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
7
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
8
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
12
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
16
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
17
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
18
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
19
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
20
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
21
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
22
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
23
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
24
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
25
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
26
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
27
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
28
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
29
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
30
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
31
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
32
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
33
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
34
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
35
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
36
|
(HPO:0002111)
|
Restrictive deficit on pulmonary function testing |
|
|
|
|
25 / 7739
|
|
37
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
38
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
39
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
40
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
41
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
42
|
(HPO:0003378)
|
Axonal degeneration/regeneration |
|
|
|
|
12 / 7739
|
|
43
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
44
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
45
|
(HPO:0003444)
|
EMG: chronic denervation signs |
|
|
|
|
5 / 7739
|
|
46
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
|
|
|
|
9 / 7739
|
|
47
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
48
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
49
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
50
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
51
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
|
|
28 / 7739
|
|
52
|
(HPO:0200085)
|
Limb tremor |
|
|
|
|
6 / 7739
|
|
53
|
(MedDRA:10056696)
|
Gaze palsy |
|
|
|
|
3 / 7739
|
|
54
|
(OMIM)
|
Protruding, fissured tongue |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Long tapered fingers |
|
|
|
|
3 / 7739
|
|
56
|
(OMIM)
|
Syndactyly of the second and third toes |
|
|
|
|
2 / 7739
|
|
57
|
(OMIM)
|
Overriding of the first toe |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Low hairline |
|
|
|
|
4 / 7739
|
|
59
|
(OMIM)
|
Progressive distal and proximal symmetric limb weakness |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
EMG shows denervation |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
|
62
|
(OMIM)
|
Individuals can stand or walk with support by 4 to 6 years of age |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Axonal swelling of spinal nerve roots and cranial nerves |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Peripheral motor neuropathy, severe |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Peripheral sensory neuropathy, severe |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Sural nerve biopsy shows absence of large myelinated fibers |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Demyelinating neuropathy |
|
|
|
|
2 / 7739
|
|
68
|
(OMIM)
|
Hypomyelinated fibers |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Decreased motor and sensory nerve conduction velocities |
|
|
|
|
1 / 7739
|
|
70
|
(OMIM)
|
Hallucinatory psychosis develops during adolescence |
|
|
|
|
1 / 7739
|
|
71
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
72
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
73
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
74
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|