OBO ID: DOID:0081048
Term Name: congenital limbs-face contractures-hypotonia-developmental delay syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0081048 )
OTHER congenital limbs-face contractures-hypotonia-developmental delay syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay 616266
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None