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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
multiple congenital anomalies-hypotonia-seizures syndrome 3
Summary
- Synonym
-
- M syndrome
- light fixation seizure syndrome
- Definition
- 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.
- Super Class
- autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
- Disease Ontology
- DOID:0080140
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q969N2 | GPI transamidase component PIG-T |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000826 | Precocious puberty |
| HP:0000829 | Hypoparathyroidism |
| HP:0000938 | Osteopenia |
| HP:0001252 | Hypotonia |
| HP:0001272 | Cerebellar atrophy |
| HP:0001363 | Craniosynostosis |
| HP:0001382 | Joint hypermobility |
| HP:0001513 | Obesity |
| HP:0001627 | Abnormal heart morphology |
| HP:0001631 | Atrial septal defect |
