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Human Disease
autosomal recessive intellectual developmental disorder 83
- Term ID
- DOID:0061114
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models