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Human Disease

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
Ontology
Human Disease   ( DOID:0081425 )
Relationships
is a type of
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Genes Involved
Zebrafish Models