Disease ID | Source | Name | Description |
615112 | OMIM | Urofacial syndrome 2 (UFS2) | A 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. The disease is caused by variants affecting the gene represented in this entry. |