Cerebellar, ocular, craniofacial, and genital syndrome

Definition:

Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is an autosomal recessive syndrome caused by loss of function mutations in MAB21L1. COFG is characterized by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism.

References:

[1]. A-L Bruel, et al. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. Clin Genet. 2017 Feb;91(2):333-338. [Content Brief]

[2]. Abolfazl Rad, et al. MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome). J Med Genet. 2019 May;56(5):332-339. [Content Brief]

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