Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Alleles: Chchd2<G88V.UAS.PA.Tag:V5> (Dme)

spinal muscular atrophy, Jokela type

Disease
Source: DOID:0081356
Definition: A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.