1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
4
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
5
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
10
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
11
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
14
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
15
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
16
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
17
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
18
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
19
|
(HPO:0002018)
|
Nausea |
|
|
|
|
44 / 7739
|
20
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
21
|
(HPO:0002039)
|
Anorexia |
|
|
|
|
62 / 7739
|
22
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
23
|
(HPO:0002579)
|
Gastrointestinal dysmotility |
|
|
|
|
11 / 7739
|
24
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
25
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
26
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
27
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
28
|
(OMIM)
|
Vomiting, episodic |
|
|
|
|
3 / 7739
|
29
|
(OMIM)
|
Rapid onset |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Occurs most often during the night or early morning |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Peak frequency of vomiting every 10 to 15 minutes |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Rapid complete resolution of symptoms |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Interictal periods of normal health |
|
|
|
|
1 / 7739
|
34
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
35
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
36
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
37
|
(HPO:0001426)
|
Multifactorial inheritance |
|
|
|
|
37 / 7739
|
38
|
(HPO:0001427)
|
Mitochondrial inheritance |
|
|
|
|
12 / 7739
|