autosomal recessive intellectual developmental disorder 74

Term ID

DOID:0081218

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. https://pubmed.ncbi.nlm.nih.gov/33161245/

References

• OMIM:617169

Ontology

Human Disease   ( DOID:0081218 )