ATP6V0C variants cause a human syndrome of developmental delay, epilepsy and intellectual disability #1208
Labels
On hold: more evidence needed
not enough evidence to define a new disease, yet
Milestone
Include:
this is a request for a new term to cover the syndrome described in PMID:36074901:
Mattison KA, et al. (2023) ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain 146(4):1357-1372
there isn't a great name, in the paper the authors call it a "syndrome of developmental delay, epilepsy and intellectual disability"
proposed definition: A neurodevelopmental disorder that is characterized by developmental delay with early onset epilepsy and intellectual disability and that has_material_basis_in mutation of the ATP6V0C gene on chromosome 16p13.3.
i came across this paper while doing disease curation for Saccharomyces Genome Database.
ORCID: 0000-0001-5472-917X
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