OBO ID: DOID:0111213
Term Name: autosomal recessive distal hereditary motor neuronopathy 4 Search Ontology:
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 )
OTHER autosomal recessive distal hereditary motor neuronopathy 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLEKHG5 Neuronopathy, distal hereditary motor, autosomal recessive 4 611067
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None