New Term Request: Developmental delay, dysmorphic facies, and brain anomalies

[vjenkinsFB]

I'd like to request a term for developmental delay, dysmorphic facies, and brain anomalies.

OMIM: https://www.omim.org/entry/620535

Potential definition: Developmental delay, dysmorphic facies, and brain anomalies has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13.

Potential parent term: autosomal dominant intellectual developmental disorder

Synonyms: DEVDFB

ClinVar search term: U2AF2[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/CN375600/ Developmental delay, dysmorphic facies, and brain anomalies

MalaCards page: https://www.malacards.org/card/developmental_delay_dysmorphic_facies_and_brain_anomalies

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23156

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/37962958/ Li D, Wang Q, Bayat A, et al. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2024;134(1):e171235. Published 2024 Jan 2. doi:10.1172/JCI171235

FlyBase paper(s) to curate with this term: FBrf0258439

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

[csbjohnson]

Hi @vjenkinsFB,

Thank you for your request for Developmental delay, dysmorphic facies, and brain anomalies. We'll review it and work on adding it to the Disease Ontology.

Best, Claudia Marie Sánchez-Beato Johnson

[csbjohnson]

Hi @vjenkinsFB,

I added Developmental delay, dysmorphic facies, and brain anomalies and it'll be reflected in the next Disease Ontology release.

Best, Claudia Marie Sánchez-Beato Johnson