Ververi-Brady syndrome

Definition:

Ververi-Brady syndrome (VERBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. It has been suggested that mutations in QRICH1 cause VERBRAS.

References:

[1]. A Ververi, et al. Phenotypic spectrum associated with de novo mutations in QRICH1 gene. Clin Genet. 2018 Feb;93(2):286-292. [Content Brief]

[2]. Julian C Lui, et al. QRICH1 mutations cause a chondrodysplasia with developmental delay. Clin Genet. 2019 Jan;95(1):160-164. [Content Brief]

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