|
1
|
(HPO:0000737)
|
Irritability |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001923)
|
Reticulocytosis |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002076)
|
Migraine |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0011972)
|
Hypoglycorrhachia |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0100660)
|
Dyskinesia |
|
|
|
|
19 / 7739
|
|
11
|
(OMIM)
|
Dyskinesia, limb, exertion-induced |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Dystonia, limb, exercise-induced |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Flaccidity, episodic |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Ataxia, mild |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Seizures, particularly absence (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
17
|
(OMIM)
|
Generalized spike wave discharges |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Generalized slowing |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
20
|
(MedDRA:10011537)
|
CSF glucose decreased |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Macrocytic hemolytic anemia, appears in infancy (in 1 family) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Echinocytes |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Erythrocytes have defects in cation permeability |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Low-to-normal CSF lactate |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Increased serum bilirubin due to hemolysis |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|