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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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models