loading...| Preferred Name |
developmental and epileptic encephalopathy 76 |
| Synonyms |
early infantile epileptic encephalopathy 76 DECAM developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination DEE76 |
| Definitions |
A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. |
| ID |
http://purl.obolibrary.org/obo/DOID_0112212 |
| database_cross_reference |
OMIM:618468 |
| definition |
A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. |
| has exact synonym |
early infantile epileptic encephalopathy 76 DECAM developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination DEE76 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0112212 |
| label |
developmental and epileptic encephalopathy 76 |
| notation |
DOID:0112212 |
| prefLabel |
developmental and epileptic encephalopathy 76 |
| subClassOf |