OBO ID: DOID:0081048 |
Term Name: | congenital limbs-face contractures-hypotonia-developmental delay syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0081048 ) |
OTHER congenital limbs-face contractures-hypotonia-developmental delay syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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