New Term Request: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizure

[vjenkinsFB]

I'd like to request a term for Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizure

OMIM: https://www.omim.org/entry/618737

Potential definition: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.

Synonyms: PAMDDFS

ClinVar search term: TUBGCP2[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties]) - PAMDDFS is only condition specified

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5231486/

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

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18599

Citations other than those in the OMIM entry: https://pubmed.ncbi.nlm.nih.gov/36078134/ Bartoszewski S, Dawidziuk M, Kasica N, et al. A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly. Cells. 2022;11(17):2727. Published 2022 Sep 1. doi:10.3390/cells11172727

Requested for FBrf0254460

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

[lschriml]

Thank you for this new term request, will this new lissencephaly. Really appreciate your detailed information !!

Cheers, Lynn

[lschriml]

Added to DO. Cheers, Lynn