Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.

Abstract excerpt

Pathogenic variants in MPDZ are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation,...

Topics

• Humans
• Neurodevelopmental Disorders
• Male
• Female
• Phenotype
• Siblings