autosomal recessive distal hereditary motor neuronopathy 3

Term ID

DOID:0111211

Synonyms

• autosomal recessive distal spinal muscular atrophy type 3
• dHMN3 and dHMN4
• distal hereditary motor neuropathy type 3 and type 4
• distal spinal muscular atrophy type 3
• dSMA3

Definition

An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. https://www.ncbi.nlm.nih.gov/pubmed/15054395

References

• MESH:C564626
• OMIM:607088
• ORDO:139547
• SNOMEDCT_US_2023_03_01:770430000
• UMLS_CUI:C1846823

Ontology

Human Disease   ( DOID:0111211 )