Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Disease ID: disease_node_16971
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| Dbxref | MIM:615398 |
|---|---|
| Subclassof | DOID_0080503, DOID_0050737 |
| Data Source | DOID |
| Synonyms | M syndrome, light fixation seizure syndrome |
| Doid Label | multiple congenital anomalies-hypotonia-seizures syndrome 3 |
| Doid Description | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16971 |
| Doid Id | DOID_0080140 |
| Disease Has Basis In | HP_0001197 |
| Label | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome(ID:disease_node_16969) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)