Symptom Information: Sort according to HPO 

1
 (HPO:0000048) Bifid scrotum 1/6 [HPO:skoehler] 36 / 7739
2
 (HPO:0000252) Microcephaly 1/6 [HPO:skoehler] 832 / 7739
3
 (HPO:0001249) Intellectual disability 2/6 [HPO:skoehler] 1089 / 7739
4
 (HPO:0001319) Neonatal hypotonia 101 / 7739
5
 (HPO:0001332) Dystonia 197 / 7739
6
 (HPO:0002023) Anal atresia 1/6 [HPO:skoehler] 135 / 7739
7
 (HPO:0002133) Status epilepticus 1/6 [HPO:skoehler] 59 / 7739
8
 (HPO:0002167) Neurological speech impairment 308 / 7739
9
 (HPO:0002188) Delayed CNS myelination 16 / 7739
10
 (HPO:0002521) Hypsarrhythmia 1/6 [HPO:skoehler] 43 / 7739
11
 (HPO:0002650) Scoliosis 1/6 [HPO:skoehler] 705 / 7739
12
 (HPO:0002836) Bladder exstrophy 8 / 7739
13
 (HPO:0100548) Exstrophy 4 / 7739
14
 (OMIM) Duplicated appendix and distal colon (in 1 of 6 patients) 1 / 7739
15
 (OMIM) Bifid phallus (in 1 of 6 patients) 1 / 7739
16
 (OMIM) Pelvicalyceal dilatation 3 / 7739
17
 (HPO:0000072) Hydroureter 146 / 7739
18
 (OMIM) Delayed psychomotor development, severe 14 / 7739
19
 (OMIM) Normal development 4 / 7739
20
 (HPO:0001250) Seizures 1245 / 7739
21
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
22
 (OMIM) EEG shows hypsarrhythmia 4 / 7739
23
 (OMIM) MRI shows delayed myelination (1 of 6 patients) 1 / 7739
24
 (OMIM) Increased urinary dihydropyrimidines 1 / 7739
25
 (OMIM) Increased urinary, plasma, and CSF N-carbamyl-beta-alanine 1 / 7739
26
 (OMIM) Increased urinary, plasma, and CSF N-carbamyl-beta-aminoisobutyric acid 1 / 7739
27
 (OMIM) Increased urinary, plasma, and CSF dihydrouracil 1 / 7739
28
 (OMIM) Increased urinary, plasma, and CSF dihydrothymine 1 / 7739
29
 (OMIM) Absence of beta-ureidopropionase activity and protein in liver biopsy 1 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0003593) Infantile onset 249 / 7739