New Term Request: Sandestig-Stefanova syndrome

[vjenkinsFB]

I'd like to request a term for Sandestig-Stefanova syndrome.

OMIM: https://omim.org/entry/618804

Potential definition: Sandestig-Stefanova syndrome has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34.

Potential parent term: syndrome

Synonyms: SANDSTEF

ClinVar search term: NUP188[gene] AND ((1[VARLEN] : 1000[VARLEN] AND "single gene"[Properties])) , this and and microcephaly are the only conditions listed, but since microcephaly is a symptom of SANDSTEF, I don’t think it conflicts

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5394118/

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

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/17859

Citations other than those in the OMIM entry: https://pubmed.ncbi.nlm.nih.gov/36158057/ Korulmaz A, Başer B, Alakaya M, Arslanköylü AE. A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities. Mol Syndromol. 2022;13(4):343-349. doi:10.1159/000521331

FlyBase paper(s) to curate with this term: FBrf0245576 (CEC, DO statements need updating)

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

[lschriml]

Thank you for the new term request !! I have added this term to the DO. Cheers, Lynn