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Human Disease

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
Ontology
Human Disease   ( DOID:0061114 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models