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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

MIM:620011

Parent Relationships

is_a autosomal recessive distal hereditary motor neuronopathy

Subclass Logical Relationships

existence starts during some Congenital onset

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