Term Name: autosomal recessive intellectual developmental disorder 74
Synonyms:
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.
Ontology: Human Disease [DOID:0081218]   ( DOID:0081218 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder