Symptom Information: Sort according to HPO 

1
 (HPO:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
 (OMIM) Pseudouridine (5-ribosyluracil) in urine 1 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739