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autosomal recessive distal hereditary motor neuronopathy 1
Summary
- Synonym
-
- DSMA1
- SIANRF
- SMARD1
- autosomal recessive distal spinal muscular atrophy 1
- autosomal recessive spinal muscular atrophy with respiratory distress
- dHMN6
- diaphragmatic spinal muscular atrophy
- distal hereditary motor neuropathy type 6
- distal spinal muscular atrophy 1
- distal-HMN type 6
- severe infantile axonal neuropathy with respiratory failure type 1
- spinal muscular atrophy with respiratory distress type 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.
- Super Class
- autosomal recessive distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111064
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
