autosomal recessive distal hereditary motor neuronopathy 6 (DOID:0081425)
Alliance: disease page
Alt IDs: OMIM:620011
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.