Disease association ontology term - MONDO:0033364 - developmental and epileptic encephalopathy, 55
Term summary
- ID
- MONDO:0033364
- Name
- developmental and epileptic encephalopathy, 55
- Ontology or CV name
- Disease association
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
