autosomal dominant intellectual developmental disorder 72

Term ID

DOID:0061045

Synonyms

Definition

An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13. https://pubmed.ncbi.nlm.nih.gov/35567594/

References

• MIM:620439

Ontology

Human Disease   ( DOID:0061045 )