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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:0002283 | Global brain atrophy |
| HP:0002650 | Scoliosis |
| HP:0002705 | High, narrow palate |
| HP:0002714 | Downturned corners of mouth |
| HP:0002720 | Decreased circulating IgA level |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002850 | Decreased circulating total IgM |
| HP:0002870 | Obstructive sleep apnea |
| HP:0003072 | Hypercalcemia |
| HP:0003100 | Slender long bone |
