Disease - Urofacial syndrome 2
- DefinitionA rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.
- AcronymUFS2
- Cross references
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Browse 1 entry- Leucine-rich repeats and immunoglobulin-like domains protein 2 · Gene: LRIG2 (KIAA0806, LIG2) · Homo sapiens (Human) · 1065 amino acids · Evidence at protein level · Annotation score: 5/5