Closed vjenkinsFB closed 8 months ago
Thank you very much for your term request for intellectual developmental disorder with autistic features and language delay, with or without seizures, @vjenkinsFB.
We'll review it, get back to you soon and update the DO for the next release.
Added to DO. DOID_0081430
I'd like to request a term for intellectual developmental disorder with autistic features and language delay, with or without seizures"
OMIM: https://omim.org/entry/618906
Potential definition: Intellectual developmental disorder with autistic features and language delay, with or without seizures has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23.
Potential parent term: developmental disorder of mental health
Synonyms: IDDALDS, TANC2-related neurodevelopmental disorder
ClinVar search term: TANC2[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])
MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5394447/
MalaCards page: https://www.malacards.org/card/intellectual_developmental_disorder_with_autistic_features_and_language_delay_with_or_without_seizures
HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/30212
Citations other than those in the OMIM entry:
FlyBase paper(s) to curate with this term: FBrf0243808
My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!