autosomal recessive intellectual developmental disorder 18

Term ID

DOID:0081190

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. https://pubmed.ncbi.nlm.nih.gov/25845469/

References

• OMIM:614249

Ontology

Human Disease   ( DOID:0081190 )