Approved symbol | FKRP |
---|---|
Approved name | fukutin related protein |
HGCN ID | HGNC:17997 |
Previous symbols | |
Inheritance | |
OMIM | 606596 |
Chromosome | 19q13.32 |
Panel(s) |
NGS Cardiomyopathy NGS Fetal akinesia deformation sequence FADS NGS Intellectual disability NGS Mendeliome NGS Muscle disorders NGS Pontocerebellar hypoplasia PCH NGS Preconception panel (for consanguineous couples) NGS Treatable metabolic neurodegenerative disorders |