hereditary disease AP-4 deficiency syndrome https://github.com/monarch-initiative/mondo/issues/7693 GARD:0027995 Orphanet:280763 UMLS:C4755264 MONDO:0100176 AP-4 deficiency syndrome MEDGEN:1663055 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.