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MIRAGE
developmental and epileptic encephalopathy 95
Summary
- Synonym
-
- DEE95
- early infantile epileptic encephalopathy 95
- Definition
- A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070382
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96S52 | GPI transamidase component PIG-S |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000158 | Macroglossia |
| HP:0000212 | Gingival overgrowth |
| HP:0000252 | Microcephaly |
| HP:0000280 | Coarse facial features |
| HP:0000331 | Short chin |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
