Visualize Submit Comment
Metadata
ID DOID:0081190
Name autosomal recessive intellectual developmental disorder 18
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/
Xrefs

MIM:614249

Parent Relationships

is_a autosomal recessive intellectual developmental disorder

Add an item to the term tracker