congenital limbs-face contractures-hypotonia-developmental delay syndrome (DOID:0081048)
Alliance: disease page
Synonyms: CLIFAHDD syndrome; congenital contractures of the limbs and face, hypotonia, and developmental delay
Alt IDs: OMIM:616266, ORDO:562528
Definition: A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33.