Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002360 | Sleep abnormality |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002521 | Hypsarrhythmia |
| HP:0005280 | Depressed nasal bridge |
| HP:0007204 | Diffuse white matter abnormalities |
| HP:0007359 | Focal-onset seizure |
| HP:0008947 | Infantile muscular hypotonia |
