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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
multiple congenital anomalies-hypotonia-seizures syndrome 1
Summary
- 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 has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
- Super Class
- autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
- Disease Ontology
- DOID:0080138
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95427 | GPI ethanolamine phosphate transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011271 | Prominent tragus |
| HP:0011333 | Asymmetric crying face |
| HP:0011344 | Severe global developmental delay |
| HP:0012448 | Delayed myelination |
| HP:0200055 | Small hand |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000073 | Ureteral duplication |
| HP:0000076 | Vesicoureteral reflux |
| HP:0000110 | Renal dysplasia |
| HP:0000175 | Cleft palate |
