Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder (CHDFIDD)

Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder, also known as cdk13-related disorder, is related to cryptorchidism, unilateral or bilateral and hypotonia. An important gene associated with Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder is CDK13 (Cyclin Dependent Kinase 13), and among its related pathways/superpathways is VEGF Pathway (Tocris). Affiliated tissues include heart and cortex, and related phenotypes are small cerebral cortex and intellectual disability