autosomal recessive distal hereditary motor neuronopathy 6

Term ID

DOID:0081425

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. https://pubmed.ncbi.nlm.nih.gov/31872057/

References

• OMIM:620011

Ontology

Human Disease   ( DOID:0081425 )