loading...| Preferred Name |
developmental and epileptic encephalopathy 65 |
| Synonyms |
early infantile epileptic encephalopathy 65 DEE65 |
| Definitions |
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080430 |
| database_cross_reference |
OMIM:618008 |
| definition |
A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. |
| has exact synonym |
early infantile epileptic encephalopathy 65 DEE65 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080430 |
| label |
developmental and epileptic encephalopathy 65 |
| notation |
DOID:0080430 |
| prefLabel |
developmental and epileptic encephalopathy 65 |
| subClassOf |