Term Name: autosomal recessive distal hereditary motor neuronopathy 6
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 )

Relationships
is a type of: autosomal recessive distal hereditary motor neuronopathy