Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD)

Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay, also known as congenital limbs-face contractures-hypotonia-developmental delay syndrome, is related to congenital contractures and hypotonia. An important gene associated with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay is NALCN (Sodium Leak Channel, Non-Selective), and among its related pathways/superpathways are Ion channel transport and Interleukin-6 family signaling. Affiliated tissues include brain and temporal lobe, and related phenotypes are neurodevelopmental delay and arthrogryposis multiplex congenita