|
1
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
6
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
10
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
11
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
12
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
13
|
(HPO:0002240)
|
Hepatomegaly |
rare [HPO:skoehler]
|
|
|
|
467 / 7739
|
|
14
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
15
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
16
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
17
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
18
|
(HPO:0100704)
|
Cortical visual impairment |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
19
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
20
|
(OMIM)
|
Delayed gyration |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Delayed opercularization |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Germinal cysts over the caudate |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Increased urinary, plasma, and CSF D-2-hydroxyglutaric acid |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Increased urinary, plasma, and CSF L-2-hydroxyglutaric acid |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Predominance of the D-stereoisomer |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Increased urinary 2-oxoglutaric acid |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0040144)
|
L-2-hydroxyglutaric aciduria |
|
|
|
|
3 / 7739
|