|
1
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
9
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
15
|
(HPO:0001557)
|
Prenatal movement abnormality |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
18
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
19
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
23
|
(OMIM)
|
Fetal distress |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Increased serum and cerebrospinal fluid levels of pipecolic acid |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|