Search Ontology:
Human Disease
autosomal recessive intellectual developmental disorder 58
- Term ID
- DOID:0081220
- Synonyms
-
- Definition
- An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/33976153/
- References
- Ontology
- Human Disease ( DOID:0081220 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models