autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities

Term ID

DOID:0061044

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development that has_material_basis_in heterozygous mutation in the RFX7 gene on chromosome 15q21. https://pubmed.ncbi.nlm.nih.gov/33658631/

References

• MIM:620330

Ontology

Human Disease   ( DOID:0061044 )