|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
occasional [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
obligate [HPO]
|
|
3598129
|
IBIS
|
555 / 7739
|
|
4
|
(HPO:0000648)
|
Optic atrophy |
frequent [HPO]
|
|
3598129
|
IBIS
|
238 / 7739
|
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
typical [HPO]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
hallmark [HPO]
|
|
18485258
|
IBIS
|
853 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
occasional [HPO]
|
|
18485258
|
IBIS
|
1245 / 7739
|
|
9
|
(HPO:0001251)
|
Ataxia |
hallmark [HPO]
|
|
3598129
|
IBIS
|
413 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
hallmark [HPO]
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001260)
|
Dysarthria |
common [HPO]
|
|
|
|
329 / 7739
|
|
13
|
(HPO:0001265)
|
Hyporeflexia |
4/7 [HPO]
|
|
3598129
|
IBIS
|
208 / 7739
|
|
14
|
(HPO:0001266)
|
Choreoathetosis |
common [HPO]
|
|
|
|
57 / 7739
|
|
15
|
(HPO:0001332)
|
Dystonia |
hallmark [HPO]
|
|
3598129
|
IBIS
|
197 / 7739
|
|
16
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
17
|
(HPO:0001508)
|
Failure to thrive |
typical [HPO]
|
|
|
|
454 / 7739
|
|
18
|
(HPO:0001583)
|
Rotary nystagmus |
|
|
|
|
7 / 7739
|
|
19
|
(HPO:0002015)
|
Dysphagia |
common [HPO]
|
|
18485258
|
IBIS
|
301 / 7739
|
|
20
|
(HPO:0002168)
|
Scanning speech |
|
|
|
|
10 / 7739
|
|
21
|
(HPO:0002361)
|
Psychomotor deterioration |
obligate [HPO]
|
|
3598129
|
IBIS
|
26 / 7739
|
|
22
|
(HPO:0002478)
|
Progressive spastic quadriplegia |
hallmark [HPO]
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0002599)
|
Head titubation |
typical [HPO]
|
|
3598129
|
IBIS
|
7 / 7739
|
|
24
|
(HPO:0003269)
|
Sudanophilic leukodystrophy |
common [HPO]
|
|
3598129
|
IBIS
|
3 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
typical [HPO]
|
|
|
|
1232 / 7739
|
|
26
|
(HPO:0004886)
|
Congenital laryngeal stridor |
occasional [HPO]
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0100709)
|
Reduction of oligodendroglia |
common [HPO]
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Decreased or absent brainstem auditory evoked potentials (BAEP) of waves III-V |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Hearing impairment may occur |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
32
|
(OMIM)
|
Rotary head movements ('rolling,' 'tremor') |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
34
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
35
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
36
|
(OMIM)
|
Progressive pyramidal and cerebellar signs |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Dysmyelination of the brain, myelin is not formed properly |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Absent myelination of the brain (severe connatal form) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Diffuse white matter hyperintensities on T2-weighed imaging |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
41
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
42
|
(HPO:0003677)
|
Slow progression |
hallmark [HPO]
|
|
|
|
134 / 7739
|
|
43
|
(HPO:0007256)
|
Abnormal pyramidal signs |
hallmark [HPO]
|
|
|
|
116 / 7739
|