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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95427 | GPI ethanolamine phosphate transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000286 | Epicanthus |
| HP:0000293 | Full cheeks |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000350 | Small forehead |
| HP:0000396 | Overfolded helix |
| HP:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
