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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:0010841 | Multifocal epileptiform discharges |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010864 | Intellectual disability, severe |
| HP:0011199 | EEG with generalized sharp slow waves |
| HP:0011470 | Nasogastric tube feeding in infancy |
| HP:0011842 | Abnormal skeletal morphology |
| HP:0012373 | Abnormal eye physiology |
| HP:0012718 | Abnormal gastrointestinal tract morphology |
| HP:0100704 | Cerebral visual impairment |
| HP:0000007 | Autosomal recessive inheritance |
