Term Name:	congenital limbs-face contractures-hypotonia-developmental delay syndrome
Synonyms:	CLIFAHDD syndrome, congenital contractures of the limbs and face, hypotonia, and developmental delay
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.
Ontology:	Human Disease [DOID:0081048]   ( DOID:0081048 )