Symptom Information: Sort according to HPO 

1
 (HPO:0000750) Delayed speech and language development 197 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0001254) Lethargy 104 / 7739
5
 (HPO:0001262) Somnolence 20 / 7739
6
 (HPO:0001357) Plagiocephaly 106 / 7739
7
 (HPO:0001510) Growth delay 295 / 7739
8
 (HPO:0001762) Talipes equinovarus 309 / 7739
9
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
10
 (HPO:0001942) Metabolic acidosis 81 / 7739
11
 (HPO:0001999) Abnormal facial shape 169 / 7739
12
 (HPO:0002023) Anal atresia 135 / 7739
13
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
14
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
15
 (HPO:0003654) Reduced dihydropyrimidine dehydrogenase activity 2 / 7739
16
 (HPO:0007308) Extrapyramidal dyskinesia 5 / 7739
17
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
18
 (HPO:0009803) Short phalanx of finger 79 / 7739
19
 (OMIM) Low anal atresia (1 patient) 1 / 7739
20
 (HPO:0001761) Pes cavus 225 / 7739
21
 (HPO:0001840) Metatarsus adductus 49 / 7739
22
 (HPO:0004684) Talipes valgus 28 / 7739
23
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
24
 (OMIM) Extrapyramidal dyskinesias (1 patient) 1 / 7739
25
 (HPO:0007256) Abnormal pyramidal signs rare [HPO:skoehler] 116 / 7739
26
 (OMIM) Increased uracil and dihydrouracil in bodily fluids 1 / 7739
27
 (OMIM) Increased thymine and dihydrothymine in bodily fluids 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (HPO:0003812) Phenotypic variability 129 / 7739