OBO ID: DOID:0111213 |
Term Name: | autosomal recessive distal hereditary motor neuronopathy 4 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111213 ) |
OTHER autosomal recessive distal hereditary motor neuronopathy 4 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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