EVC2 Associated Meckel Gruber Syndrome

Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

Mode of Inheritance

Autosomal recessive

Gene Map Locus



A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. [From Orphanet]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
225500.7Saudi ArabiaMaleYesYes Neonatal death; Potter facies; Sloping f...NM_147127.5:c.3870_3893dupHomozygousAutosomal, RecessiveAlazami et al. 2015; Maddirevula et al. 2018
© CAGS 2024. All rights reserved.