|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
7
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
11
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
13
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
15
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
17
|
(HPO:0008288)
|
Nonketotic hyperglycinemia |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
19
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
20
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
21
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
22
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
23
|
(OMIM)
|
Limb spasticity |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
25
|
(OMIM)
|
Periventricular and subcortical white matter abnormalities |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
27
|
(OMIM)
|
Increased D-glyceric acid in serum, urine, and CSF |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0002154)
|
Hyperglycinemia |
|
|
|
|
12 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|