|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
9
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
10
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
11
|
(HPO:0002416)
|
Subependymal cysts |
|
|
|
|
6 / 7739
|
|
12
|
(HPO:0002572)
|
Episodic vomiting |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0005348)
|
Inspiratory stridor |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0006956)
|
Dilation of lateral ventricles |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0007052)
|
Multifocal cerebral white matter abnormalities |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0012321)
|
D-2-hydroxyglutaric aciduria |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Neonatal/early-infantile onset encephalopathy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
20
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
21
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
22
|
(OMIM)
|
Delayed gyration |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
24
|
(OMIM)
|
Elevated D-2-hydroxyglutaric acid (urine, plasma, CSF) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Elevated L-2-hydroxyglutaric acid (urine) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Elevated 2-ketoglutarate (urine) |
|
|
|
|
1 / 7739
|