intellectual developmental disorder with autistic features and language delay, with or without seizures

Term ID

DOID:0081430

Synonyms

• IDDALDS

Definition

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. https://pubmed.ncbi.nlm.nih.gov/31616000/

References

• OMIM:618906

Ontology

Human Disease   ( DOID:0081430 )