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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:0008676 | Congenital megaureter |
| HP:0008718 | Unilateral renal dysplasia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0010282 | Thin lower lip vermilion |
| HP:0010291 | Prominent palatine ridges |
| HP:0010544 | Vertical nystagmus |
| HP:0010804 | Tented upper lip vermilion |
| HP:0010880 | Increased nuchal translucency |
| HP:0011247 | Prominent superior crus of antihelix |
