Microcephaly, Seizures, And Developmental Delay
Disease ID: disease_node_16207
Connections displayed (default: 10).
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| Dbxref | MIM:613402 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | developmental and epileptic encephalopathy 10, early infantile epileptic encephalopathy 10 |
| Doid Label | microcephaly, seizures, and developmental delay |
| Doid Description | A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16207 |
| Doid Id | DOID_0080457 |
| Label | Microcephaly, Seizures, And Developmental Delay |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)