|
1
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000738)
|
Hallucinations |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0012086)
|
Abnormal urinary color |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
6
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0002315)
|
Headache |
Very frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
8
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
10
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
11
|
(HPO:0000988)
|
Skin rash |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
12
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
13
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
14
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
15
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
16
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
17
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
18
|
(HPO:0000206)
|
Glossitis |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0200037)
|
Skin vesicle |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
Occasional [HPO:probinson]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
23
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
24
|
(HPO:0000230)
|
Gingivitis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
25
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
26
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
27
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
28
|
(HPO:0008353)
|
Neutral hyperaminoaciduria |
|
|
|
|
1 / 7739
|
|
29
|
(MedDRA:10069085)
|
Atrophic glossitis |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Light-sensitive dermatitis |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
32
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
34
|
(HPO:0002131)
|
Episodic ataxia |
|
|
|
|
16 / 7739
|