Term Name: | autosomal recessive intellectual developmental disorder 83 |
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Synonyms: | MRT83 |
Definition: | An autosomal recessive intellectual developmental disorder characterized by global developmental delay with mildly delayed walking (by a few years), mild to moderate intellectual disability, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the KICS2 gene on chromosome 12q14. |
Ontology: | Human Disease [DOID:0061114] ( DOID:0061114 ) |