autosomal dominant intellectual developmental disorder 69

Term ID

DOID:0061042

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/31020005/

References

MIM:617863

Ontology

Human Disease ( DOID:0061042 )

Relationships

is a type of: autosomal dominant intellectual developmental disorder

autosomal dominant intellectual developmental disorder Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models