Metadata | |
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ID | DOID:0081430 |
Name | intellectual developmental disorder with autistic features and language delay, with or without seizures |
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/ |
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Synonyms |
IDDALDS [EXACT] |
Parent Relationships |