| Metadata | |
|---|---|
| ID | DOID:0081218 |
| Name | autosomal recessive intellectual developmental disorder 74 |
| 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. https://pubmed.ncbi.nlm.nih.gov/33161245/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |