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multiple congenital anomalies-hypotonia-seizures syndrome 2
Summary
- Synonym
-
- developmental and epileptic encephalopathy 20
- early infantile epileptic encephalopathy 20
- glycosylphosphatidylinositol biosynthesis defect 4
- Definition
- A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.
- Super Class
- X-linked recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
- Disease Ontology
- DOID:0080139
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100158632 | piga | phosphatidylinositol glycan anchor biosynthesis class A | Xenopus tropicalis (tropical clawed frog) | |
| 108707921 | piga.L | phosphatidylinositol glycan anchor biosynthesis class A L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P37287 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002171 | Gliosis |
| HP:0002240 | Hepatomegaly |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0002521 | Hypsarrhythmia |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0002714 | Downturned corners of mouth |
| HP:0002878 | Respiratory failure |
| HP:0002987 | Elbow flexion contracture |
