| Metadata | |
|---|---|
| ID | DOID:0111213 |
| Name | autosomal recessive distal hereditary motor neuronopathy 4 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/16728649, https://www.ncbi.nlm.nih.gov/pubmed/17564964 |
| Xrefs |
SNOMEDCT_US_2023_03_01:771302009 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive distal spinal muscular atrophy type 4 [EXACT] autosomal recessive lower motor neuron disease with childhood onset [EXACT] distal spinal muscular atrophy type 4 [EXACT] DSMA4 [EXACT] |
| Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |