Human genes for autosomal recessive distal hereditary motor neuronopathy 2
Autosomal recessive distal hereditary motor neuronopathy 2 [DOID:0111065]
A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.
Synonyms: autosomal recessive distal hereditary motor neuronopathy 2, DOID:0111065, autosomal recessive distal familial motor neuronopathy 2, DSMA2, autosomal recessive distal spinal muscular atrophy 2 ...