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Human Disease

spinal muscular atrophy, Jokela type

Term ID
DOID:0081356
Synonyms
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. (2)
References
Ontology
Human Disease   ( DOID:0081356 )
Relationships
is a type of
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Genes Involved
Zebrafish Models