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intellectual developmental disorder with autistic features and language delay, with or without seizures
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0081430
- Mondo Disease Ontology
- OMIM
Related Genes
