autosomal recessive intellectual developmental disorder 18

Term ID

DOID:0081190

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

MIM:614249

Ontology

Human Disease ( DOID:0081190 )

Relationships

is a type of: autosomal recessive intellectual developmental disorder

autosomal recessive intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models