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congenital limbs-face contractures-hypotonia-developmental delay syndrome (DOID:0081048)
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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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory