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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:0002100 | Recurrent aspiration pneumonia |
| HP:0002119 | Ventriculomegaly |
| HP:0002265 | Large fleshy ears |
| HP:0002286 | Fair hair |
| HP:0002305 | Athetosis |
| HP:0002616 | Aortic root aneurysm |
| HP:0002951 | Partial absence of cerebellar vermis |
| HP:0003196 | Short nose |
| HP:0003324 | Generalized muscle weakness |
| HP:0004488 | Macrocephaly at birth |
