congenital limbs-face contractures-hypotonia-developmental delay syndrome

Term ID

DOID:0081048

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. (3)

References

• OMIM:616266
• ORDO:562528

Ontology

Human Disease   ( DOID:0081048 )