|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
4
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
5
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
6
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
12
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
16
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
17
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
18
|
(HPO:0007108)
|
Demyelinating peripheral neuropathy |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
20
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
21
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
22
|
(OMIM)
|
Abnormal pursuit |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Decreased glutamate oxidation (about 63% of normal) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
|
25
|
(OMIM)
|
Mental retardation, severe to profound |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Only some achieve rolling or sitting |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Head bobbing |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
29
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
31
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
32
|
(OMIM)
|
Cortical atrophy, progressive |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Cerebellar atrophy, progressive |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
35
|
(OMIM)
|
Peripheral demyelinating neuropathy |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|