Term Name: | autosomal recessive intellectual developmental disorder 18 |
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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. |
Ontology: | Human Disease [DOID:0081190] ( DOID:0081190 ) |