Approved symbol | MMACHC |
---|---|
Approved name | metabolism of cobalamin associated C |
HGCN ID | HGNC:24525 |
Previous symbols | |
Inheritance | |
OMIM | 609831 |
Chromosome | 1p34.1 |
Panel(s) |
NGS Cone-rod dystrophie en macula degeneratie NGS Intellectual disability NGS Leber congenital amaurosis LCA NGS Mendelioom NGS Metabole aandoeningen NGS Preconceptiepanel (t.b.v. consanguine paren) NGS Retinitis pigmentosa NGS Visus pakket Retinale genen NGS Wittestofziekten |