Disease - Arthrogryposis, renal dysfunction and cholestasis syndrome 2
- DefinitionA multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.
- AcronymARCS2
- Alternative names
- Cross references
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Browse 1 entry- Spermatogenesis-defective protein 39 homolog · Gene: VIPAS39 (C14orf133, SPE39, VIPAR) · Homo sapiens (Human) · 493 amino acids · Evidence at protein level · Annotation score: 5/5