OBO ID: DOID:0081220
Term Name: autosomal recessive intellectual developmental disorder 58 Search Ontology:
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 )
OTHER autosomal recessive intellectual developmental disorder 58 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ELP2 Intellectual developmental disorder, autosomal recessive 58 617270
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None