Mondo Description Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene.

Uniprot Description A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly.