|
1
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
3
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
13
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
14
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
15
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
16
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
17
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
19
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
20
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
21
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
22
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
23
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
24
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
25
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
26
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
27
|
(HPO:0002487)
|
Hyperkinesis |
|
|
|
|
7 / 7739
|
|
28
|
(OMIM)
|
Delayed development, ranging from mild to severe |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Approximately 30% of patients show normal early development |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
31
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
32
|
(OMIM)
|
MRI shows increased T2-weighted signals in the globus pallidi |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Autism, mild |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Psychosis in older patients |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Increased urinary excretion of 4-hydroxybutyric acid (GHB) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Increased CSF and plasma GHB |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Increased urinary excretion of gamma-aminobutyric acid (GABA) |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Increased CSF and plasma GABA |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Decreased activity of succinic semialdehyde dehydrogenase (SSADH, ALDH5A1), less than 5% of control values |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
43
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|