Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures

Definition:

Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neuronal migration disorder. It has been reported that PAMDDFS is caused by mutations in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2). GCP2 is a core component of gamma-tubulin ring complex that regulate the assembly of microtubules.

References:

[1]. Tadahiro Mitani, et al. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 Nov 7;105(5):1005-1015. [Content Brief]

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