autosomal recessive intellectual developmental disorder 74 (DOID:0081218)
Alliance: disease page
Alt IDs: OMIM:617169
Definition: An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported.