loading...| Preferred Name |
developmental and epileptic encephalopathy 107 |
| Synonyms |
DEE107 early infantile epileptic encephalopathy 107 |
| Definitions |
A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. |
| ID |
http://purl.obolibrary.org/obo/DOID_0070393 |
| database_cross_reference |
OMIM:620033 |
| definition |
A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. |
| has exact synonym |
DEE107 early infantile epileptic encephalopathy 107 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0070393 |
| label |
developmental and epileptic encephalopathy 107 |
| notation |
DOID:0070393 |
| prefLabel |
developmental and epileptic encephalopathy 107 |
| subClassOf |