FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital limbs-face contractures-hypotonia-developmental delay syndrome ID (Ontology) DOID:0081048 (Human Disease)
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.
Also Known As "CLIFAHDD syndrome" ; "congenital contractures of the limbs and face, hypotonia, and developmental delay"
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 congenital limbs-face contractures-hypotonia-developmental delay syndrome       1
 for disease ribbon | congenital limbs-face contractures-hypotonia-developmental delay syndrome       1
 model of | congenital limbs-face contractures-hypotonia-developmental delay syndrome       1
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                congenital limbs-face contractures-hypotonia-developmental delay syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "CLIFAHDD syndrome" EXACT
    "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT
Secondary IDs
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MIM:616266
ORDO:562528