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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04995P372875277
PIGA
Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
Homo sapiens
PTMD10915Q969N251604
PIGT
GPI transamidase component PIG-T
Homo sapiens
PTMD11256Q96G7455593
OTUD5
OTU domain-containing protein 5
Homo sapiens