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DO Term : autosomal dominant distal hereditary motor neuronopathy 8 [DOID:0111215] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11.
  • synonyms:
  • congenital benign spinal muscular atrophy with contractures,
  • 600175,
  • congenital nonprogressive spinal muscular atrophy,
  • DHMN8,
  • OMIM:600175,
  • autosomal dominant congenital benign spinal muscular atrophy,
  • HMN8,
  • autosomal dominant benign distal spinal muscular atrophy,
  • distal hereditary motor neuronopathy type 8,
  • distal hereditary motor neuropathy type VIII
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