About   Help   FAQ
Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory