|
1
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
8
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
9
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
10
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0007291)
|
Posterior fossa cyst |
|
|
|
|
10 / 7739
|
|
13
|
(OMIM)
|
Retrognathia, mild |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
15
|
(OMIM)
|
Tonic posturing |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Abnormal gyri |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
High pitched cry |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (CSF) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Increased beta-alanine (in 1 of 2 patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Increased growth hormone (in 1 of 2 patients) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased hepatic GABA transaminase activity |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|