Term Name: | autosomal recessive distal hereditary motor neuronopathy 6 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081425] ( DOID:0081425 ) |