WormBase Tree Display for DO_term: DOID:0081048
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| DOID:0081048 | Name | congenital limbs-face contractures-hypotonia-developmental delay syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact (2) | ||||
| Parent | Is_a (2) | ||||
| DB_info | Database | OMIM | disease | 616266 | |
| Disease_model_annotation (5) | |||||
| Attribute_of (4) |
