OBO ID: DOID:0081190
Term Name: autosomal recessive intellectual developmental disorder 18 Search Ontology:
Synonyms:
Definition: An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. https://pubmed.ncbi.nlm.nih.gov/25845469/
References:
Ontology: Human Disease   ( DOID:0081190 )
OTHER autosomal recessive intellectual developmental disorder 18 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MED23 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy 614249
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None