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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:0001667 | Right ventricular hypertrophy |
| HP:0001761 | Pes cavus |
| HP:0001773 | Short foot |
| HP:0001804 | Hypoplastic fingernail |
| HP:0002015 | Dysphagia |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002023 | Anal atresia |
| HP:0002025 | Anal stenosis |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002092 | Pulmonary arterial hypertension |
