Metadata | |
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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/ |
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Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |