|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0000804)
|
Xanthine nephrolithiasis |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0001083)
|
Ectopia lentis |
|
|
|
|
45 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
13
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
15
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
16
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
17
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
18
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
19
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
20
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0002932)
|
Aldehyde oxidase deficiency |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0003166)
|
Increased urinary taurine |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
24
|
(HPO:0003359)
|
Decreased urinary sulfate |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0003447)
|
Axonal loss |
|
|
|
|
11 / 7739
|
|
26
|
(HPO:0003534)
|
Reduced xanthine dehydrogenase activity |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0003537)
|
Hypouricemia |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0003570)
|
Molybdenum cofactor deficiency |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0003606)
|
Absent urinary urothione |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0003643)
|
Sulfite oxidase deficiency |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0003739)
|
Myoclonic spasms |
|
|
|
|
7 / 7739
|
|
32
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
33
|
(HPO:0010934)
|
Xanthinuria |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
35
|
(HPO:0011814)
|
Increased urinary hypoxanthine |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0011935)
|
Decreased urinary urate |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0011942)
|
Increased urinary sulfite |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0011943)
|
Increased urinary thiosulfate |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
40
|
(HPO:0001142)
|
Lenticonus |
|
|
|
|
4 / 7739
|
|
41
|
(HPO:0008063)
|
Aplasia/Hypoplasia of the lens |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0011527)
|
Lentiglobus |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Elongated palpebral fissures |
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
45
|
(OMIM)
|
Asymmetric skull |
|
|
|
|
6 / 7739
|
|
46
|
(OMIM)
|
Absent or delayed psychomotor development, severe |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
48
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
49
|
(OMIM)
|
Cystic lysis of the deep white matter |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Increased urinary S-sulfocysteine |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Decreased xanthine dehydrogenase activity |
|
|
|
|
2 / 7739
|
|
52
|
(OMIM)
|
Decreased sulfite oxidase activity |
|
|
|
|
2 / 7739
|
|
53
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
54
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|