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developmental and epileptic encephalopathy 104
Summary
- Synonym
-
- DEE104
- early infantile epileptic encephalopathy 104
- Definition
- A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070390
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q93050 | V-type proton ATPase 116 kDa subunit a 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000252 | Microcephaly |
| HP:0000348 | High forehead |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
| HP:0000546 | Retinal degeneration |
| HP:0000639 | Nystagmus |
| HP:0000708 | Atypical behavior |
| HP:0000717 | Autism |
| HP:0000648 | Optic atrophy |
