autosomal dominant intellectual developmental disorder 77

Term ID

DOID:0081469

Synonyms

Definition

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay that leads to mild to moderate intellectual disability and that has_material_basis_in heterozygous mutation in the LRRC7 gene on chromosome 1q31.1. https://pubmed.ncbi.nlm.nih.gov/39256359/

References

• MIM:621415

Ontology

Human Disease   ( DOID:0081469 )