Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Disease ID: disease_node_16970
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| Dbxref | MIM:618548 |
|---|---|
| Subclassof | DOID_0080503, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DEE77, GPIBD19, MCAHS4, developmental and epileptic encephalopathy 77, early infantile epileptic encephalopathy 77, glycosylphosphatidylinositol biosynthesis defect 19 |
| Doid Label | multiple congenital anomalies-hypotonia-seizures syndrome 4 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16970 |
| Doid Id | DOID_0112213 |
| Label | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome(ID:disease_node_16969) (Disease)