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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:0012554 | Absent thumbnail |
| HP:0100660 | Dyskinesia |
| HP:0100716 | Self-injurious behavior |
| HP:0000522 | Alacrima |
| HP:0009909 | Uplifted earlobe |
| HP:0000319 | Smooth philtrum |
| HP:0002119 | Ventriculomegaly |
| HP:0000219 | Thin upper lip vermilion |
| HP:0001357 | Plagiocephaly |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
