New Term Request: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

[vjenkinsFB]

I'd like to request a term for neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities.

OMIM: https://omim.org/entry/620489

Potential definition: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.

Potential parent term: syndromic intellectual disability

Synonyms: NEDFBA

ClinVar search term: SRSF1[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/CN372727/ (it’s not showing up properly in the search results somehow?)

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/10780

FlyBase paper(s) to curate with this term: FBrf0256462

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

[csbjohnson]

Hi @vjenkinsFB, thank you very much for your request! We'll review it and reflect these changes in the next DO release!