| Metadata | |
|---|---|
| ID | DOID:0111064 |
| Name | autosomal recessive distal hereditary motor neuronopathy 1 |
| Definition | A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/11528396, https://www.ncbi.nlm.nih.gov/pubmed/2801766 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive distal spinal muscular atrophy 1 [EXACT] autosomal recessive spinal muscular atrophy with respiratory distress [EXACT] dHMN6 [EXACT] diaphragmatic spinal muscular atrophy [EXACT] distal hereditary motor neuropathy type 6 [EXACT] distal spinal muscular atrophy 1 [EXACT] distal-HMN type 6 [EXACT] DSMA1 [EXACT] severe infantile axonal neuropathy with respiratory failure type 1 [EXACT] SIANRF [EXACT] SMARD1 [EXACT] spinal muscular atrophy with respiratory distress type 1 [EXACT] |
| Parent Relationships |
is_a autosomal recessive distal hereditary motor neuronopathy |