|
1
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0001992)
|
Organic aciduria |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0003391)
|
Gowers sign |
rare [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0012113)
|
Abnormality of creatine metabolism |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Muscle weakness, predominantly proximal |
|
|
|
|
4 / 7739
|
|
10
|
(OMIM)
|
Muscle biopsy shows fiber type variation (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
12
|
(OMIM)
|
Brain MRS shows decreased creatine content |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased plasma and urinary guanidinoacetate (GAA) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|