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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:0000076 | Vesicoureteral reflux |
| HP:0002714 | Downturned corners of mouth |
| HP:0000455 | Broad nasal tip |
| HP:0009023 | Abdominal wall muscle weakness |
| HP:0000508 | Ptosis |
| HP:0000293 | Full cheeks |
| HP:0001869 | Deep plantar creases |
| HP:0010544 | Vertical nystagmus |
| HP:0000767 | Pectus excavatum |
| HP:0000343 | Long philtrum |
