DISEASE: Cerebellar, ocular, craniofacial, and genital syndrome
Entry
H02496 Disease
Name
Cerebellar, ocular, craniofacial, and genital syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02496 Cerebellar, ocular, craniofacial, and genital syndrome
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Caglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M
Title
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
