|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
3
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
7
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
11
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
12
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
14
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
16
|
(HPO:0001945)
|
Fever |
Frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
17
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
19
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
20
|
(HPO:0003474)
|
Sensory impairment |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
22
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
25
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
26
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
27
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
28
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
29
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
30
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
31
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
|
32
|
(HPO:0001973)
|
Autoimmune thrombocytopenia |
|
|
|
|
18 / 7739
|
|
33
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
34
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
35
|
(HPO:0002191)
|
Progressive spasticity |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0002333)
|
Motor deterioration |
|
|
|
|
7 / 7739
|
|
37
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
38
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
39
|
(HPO:0002506)
|
Diffuse cerebral atrophy |
|
|
|
|
9 / 7739
|
|
40
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
41
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
|
|
21 / 7739
|
|
42
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
|
43
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
44
|
(HPO:0007928)
|
Abnormal flash visual evoked potentials |
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|