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Human Disease

autosomal recessive distal hereditary motor neuronopathy 4

Term ID
DOID:0111213
Synonyms
  • autosomal recessive distal spinal muscular atrophy type 4
  • autosomal recessive lower motor neuron disease with childhood onset
  • distal spinal muscular atrophy type 4
  • DSMA4
Definition
An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. (2)
References
Ontology
Human Disease   ( DOID:0111213 )
Relationships
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Genes Involved
Zebrafish Models