1
|
(HPO:0000457)
|
Depressed nasal ridge |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
5
|
(HPO:0000276)
|
Long face |
Very frequent [Orphanet]
|
|
|
|
109 / 7739
|
6
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
7
|
(HPO:0000496)
|
Abnormality of eye movement |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
8
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
9
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
12
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
13
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
14
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
15
|
(HPO:0000093)
|
Proteinuria |
Occasional [Orphanet]
|
|
|
|
169 / 7739
|
16
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
17
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
18
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
19
|
(HPO:0000100)
|
Nephrotic syndrome |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
20
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
21
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
22
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
23
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
24
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
25
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
26
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
27
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
28
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
29
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
30
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
31
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
32
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
33
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
34
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
35
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
36
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
37
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
|
|
20 / 7739
|
38
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
39
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
40
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
41
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
42
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
43
|
(HPO:0007766)
|
Optic disc hypoplasia |
|
|
|
|
7 / 7739
|
44
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
45
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
46
|
(OMIM)
|
Hypoplastic optic disc |
|
|
|
|
3 / 7739
|
47
|
(OMIM)
|
Broad, flat nasal root |
|
|
|
|
4 / 7739
|
48
|
(MedDRA:10062005)
|
Histology |
|
|
|
|
2 / 7739
|
49
|
(OMIM)
|
Spinous, granular, and stratum corneum layers contain clear vesicles |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Abnormal lamellar granule maturation |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Abnormal distribution of glucosylceramides |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Major developmental milestones are not attained |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Roving eye movements |
|
|
|
|
3 / 7739
|
54
|
(OMIM)
|
Trunk hypotonia |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
MRI shows defects of the corpus callosum |
|
|
|
|
1 / 7739
|
56
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
57
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
58
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
59
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
60
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
61
|
(HPO:0400004)
|
Long ear |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
62
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
63
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|