Clinical features and inheritance
De novo disruption of the PSMD12 gene cause an autosomal dominant disorder characterized mainly by neurodevelopmental impairment (developmental delay/intellectual disability, abnormal behavior, hypotonia, epilepsy) and congenital malformations (cardiac, renal, and genital abnormalities).
Prevalence
The disorder is rare, as only three nonsense variants were identified in about 50,000 exomes and seven CNV deletions were observed among over 59,000 individuals in the princeps study.