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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:0000079 | Abnormality of the urinary system |
| HP:0000107 | Renal cyst |
| HP:0000110 | Renal dysplasia |
| HP:0000121 | Nephrocalcinosis |
| HP:0000248 | Brachycephaly |
| HP:0000272 | Malar flattening |
| HP:0000341 | Narrow forehead |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
