Metadata | |
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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 |