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Spinal muscular atrophy with respiratory distress
2 OMIM references -
2 associated genes
6 connected diseases
No signs/symptoms info
Disease Type of connection
2q37 microdeletion syndrome
3M syndrome
Alström syndrome
Combined oxidative phosphorylation defect type 8
Mosaic variegated aneuploidy syndrome
Retinitis pigmentosa
Synonym(s):
- Autosomal recessive distal spinal muscular atrophy type 1
- Diaphragmatic spinal muscular atrophy
- Distal hereditary motor neuropathy type 6
- SIANRF
- SMARD
- SMARD1
- Severe infantile axonal neuropathy with respiratory failure
- dHMN6
- dSMA1
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
IGHMBP2 P38935600502
MEGF10 Q96KG7612453
No signs/symptoms info available.