1
|
(HPO:0001025)
|
Urticaria |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
3
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
6
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
8
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
9
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
11
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
12
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
13
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
14
|
(HPO:0000651)
|
Diplopia |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
17
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
18
|
(OMIM)
|
No aminoaciduria or indicanuria |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
No tryptophan malabsorption or tryptophanuria |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Impaired synthesis of quinolinic acid and nicotinamide nucleotides from tryptophan |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Defect in degradation of tryptophan |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Pellagra-like rash |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Red, scaly rash of face, upper chest, hands, and legs |
|
|
|
|
1 / 7739
|
24
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
25
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|