Term Name: | autosomal recessive intellectual developmental disorder 74 |
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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 ) |