SPAST-related motor disorder
Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,
MONDO:0002602
central nervous system disorder
is_a
MONDO:0100545
hereditary neurological disease
is_a
SPBC947.01 SPAC328.04