Human genes for autosomal recessive distal hereditary motor neuronopathy 1
Autosomal recessive distal hereditary motor neuronopathy 1 [DOID:0111064]
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.
Synonyms: autosomal recessive distal hereditary motor neuronopathy 1, DOID:0111064, autosomal recessive distal familial motor neuronopathy 1, DSMA1, SIANRF ...