|
1
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0007153)
|
Progressive extrapyramidal movement disorder |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
11
|
(OMIM)
|
Developmental delay or regression |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
13
|
(OMIM)
|
Absent or limited speech development |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Increased muscle tone in lower limbs |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Extremely low creatine excretion |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Low CSF creatine |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Low CSF creatinine |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Deficiency of creatine phosphate in brain |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Accumulation of guanidinoacetate in brain |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Guanidinoacetate methyltransferase (GAMT) deficiency |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|