Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Disease ID: disease_node_20091
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| Dbxref | MIM:616266, ORDO:562528 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | CLIFAHDD syndrome, congenital contractures of the limbs and face, hypotonia, and developmental delay |
| Doid Label | congenital limbs-face contractures-hypotonia-developmental delay syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20091 |
| Doid Id | DOID_0081048 |
| Label | Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)