Developmental Delay And Seizures With Or Without Movement Abnormalities
Disease ID: disease_node_16365
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| Dbxref | MIM:617836 |
|---|---|
| Subclassof | DOID_0050888 |
| Data Source | DOID |
| Doid Label | developmental delay and seizures with or without movement abnormalities |
| Doid Description | A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. |
| Has Phenotype | HP_0012758 |
| Disease Node Id | disease_node_16365 |
| Doid Id | DOID_0080473 |
| Label | Developmental Delay And Seizures With Or Without Movement Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic Intellectual Disability(ID:disease_node_16360) (Disease)