New Term Request: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures

[vjenkinsFB]

I'd like to request a term for neurodevelopmental disorder with hypotonia and speech delay, with or without seizures.

OMIM: https://omim.org/entry/620455

Potential definition: Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures has_material_basis_in heterozygous mutation in the EIF4A2 gene on chromosome 3q27.

Potential parent term: syndromic intellectual disability

Synonyms: NEDHSS

ClinVar search term: EIF4A2[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: none so far. In ClinVar, terms used are mostly neurodevelopmental disorder -or- Neurodevelopmental disorder with hypotonia and speech delay, with one user calling it intellectual disability with muscular spams.

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/3284

Citations other than those in the OMIM entry: none

FlyBase paper(s) to curate with this term: FBrf0255452

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

[allenbaron]

Thanks Victoria. This disease will be in the Dec release (DOID:0070512).

[vjenkinsFB]

Thank you! And thanks for posting the link to the commit, it is very helpful to see what the entry will be.