AP-4 deficiency syndrome
A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.
MONDO:0003847
hereditary disease
is_a
AP-4 deficiency syndrome
exact