autosomal recessive intellectual developmental disorder 83

Term ID

DOID:0061114

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. https://pubmed.ncbi.nlm.nih.gov/39824192/

References

• MIM:621100

Ontology

Human Disease   ( DOID:0061114 )