| Metadata | |
|---|---|
| ID | DOID:0112211 |
| Name | developmental and epileptic encephalopathy 75 |
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. https://pubmed.ncbi.nlm.nih.gov/29915213/ |
| Xrefs | |
| Synonyms |
DEE75 [EXACT] early infantile epileptic encephalopathy 75 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |