| Metadata | |
|---|---|
| ID | DOID:0081048 |
| Name | congenital limbs-face contractures-hypotonia-developmental delay syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/25864427/, https://www.nature.com/articles/s41598-019-48071-x, https://pubmed.ncbi.nlm.nih.gov/30167850/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLIFAHDD syndrome [EXACT] congenital contractures of the limbs and face, hypotonia, and developmental delay [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |