Term Name: autosomal recessive intellectual developmental disorder 83
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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder