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DOID:0081048 - congenital limbs-face contractures-hypotonia-developmental delay syndrome
Disease Ontology 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.
Synonyms: CLIFAHDD syndrome, congenital contractures of the limbs and face, hypotonia, and developmental delay,
Xenbase Genes
:
nalcn
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)