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MIRAGE
multiple congenital anomalies-hypotonia-seizures syndrome 4
Summary
- Synonym
-
- DEE77
- GPIBD19
- MCAHS4
- developmental and epileptic encephalopathy 77
- early infantile epileptic encephalopathy 77
- glycosylphosphatidylinositol biosynthesis defect 19
- Definition
- A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3.
- Super Class
- autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
- Disease Ontology
- DOID:0112213
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000023 | Inguinal hernia |
| HP:0001561 | Polyhydramnios |
| HP:0000280 | Coarse facial features |
| HP:0000506 | Telecanthus |
| HP:0100704 | Cerebral visual impairment |
| HP:0000803 | Renal cortical cysts |
| HP:0000347 | Micrognathia |
| HP:0002650 | Scoliosis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000977 | Soft skin |
