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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| GAMT | 601240 | 612736 | 19p13.3 | c.327G>A (p.K109K, splice site mutation) | | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | 2 |
| GAMT | 601240 | 612736 | 19p13.3 | c.424_426delGAG (p.E142del) | | | 1 |
| GAMT | 601240 | 612736 | 19p13.3 | c.522G>A (P.W174X) | | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | 2 |
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