New Term Request: Intellectual developmental disorder with autistic features and language delay, with or without seizures

[vjenkinsFB]

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:

• https://pubmed.ncbi.nlm.nih.gov/34964047/ Garrett L, Da Silva-Buttkus P, Rathkolb B, et al. Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk. Dis Model Mech. 2022;15(3):dmm049205. doi:10.1242/dmm.049205
• https://pubmed.ncbi.nlm.nih.gov/36534563/ Long F, Zheng J, Zhou J, Hu P, Xiong B. Knockout of tanc2 causes autism-like behavior and sleep disturbance in zebrafish. Autism Res. 2023;16(3):524-534. doi:10.1002/aur.2880

FlyBase paper(s) to curate with this term: FBrf0243808

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

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.

[lschriml]

Added to DO. DOID_0081430