Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008936 | Axial hypotonia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0012448 | Delayed myelination |
| HP:0002987 | Elbow flexion contracture |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0005484 | Secondary microcephaly |
| HP:0011330 | Metopic synostosis |
| HP:0002714 | Downturned corners of mouth |
| HP:0100704 | Cerebral visual impairment |
