|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
9
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
10
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
13
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0006834)
|
Developmental stagnation at onset of seizures |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
19
|
(HPO:0012391)
|
Hyporeflexia of upper limbs |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|
|
21
|
(MedDRA:10069633)
|
Decreased eye contact |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Eye deviation |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
24
|
(OMIM)
|
Dyspigmentation |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Hyperpigmented 2 to 5-mm macules mainly on the extremities |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
De- or hypo-pigmented macules (less common) |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
28
|
(OMIM)
|
Tonic spasms |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Startle myoclonus |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Seizures are difficult to control |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
EEG shows multifocal epileptiform discharges on diffuse slow background |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
33
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
34
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
35
|
(OMIM)
|
Inability to sit unsupported |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Inability to reach |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Non-purposeful arm movements, choreoathetoid-like |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Hyporeflexia in the upper limbs |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|