|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
3
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
6
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
7
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
15
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
16
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
17
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
18
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
19
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
20
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
21
|
(HPO:0003654)
|
Reduced dihydropyrimidine dehydrogenase activity |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
23
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
24
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
25
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
26
|
(OMIM)
|
Increased urinary uracil |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Increased urinary thymine |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Decreased or absent dihydropyrimidine dehydrogenase activity |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|