autosomal recessive intellectual developmental disorder 3

Term ID

DOID:0081179

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/16033914/

References

• OMIM:608443

Ontology

Human Disease   ( DOID:0081179 )