| Metadata | |
|---|---|
| ID | DOID:0081425 |
| Name | autosomal recessive distal hereditary motor neuronopathy 6 |
| Definition | An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. https://pubmed.ncbi.nlm.nih.gov/31872057/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |
| Subclass Logical Relationships |
existence starts during some Congenital onset |