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Browse result for Multiple congenital anomalies
※ introduction Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
Reference
Wiki: Multiple congenital anomalies
Reference
Wiki: Multiple congenital anomalies
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04995 | P37287 | 5277 | PIGA | Phosphatidylinositol N-acetylglucosaminyltransferase subunit A | Homo sapiens |
| PTMD10915 | Q969N2 | 51604 | PIGT | GPI transamidase component PIG-T | Homo sapiens |
| PTMD11256 | Q96G74 | 55593 | OTUD5 | OTU domain-containing protein 5 | Homo sapiens |
