1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
3
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
4
|
(HPO:0100825)
|
Cheilitis |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
5
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
6
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
7
|
(HPO:0002039)
|
Anorexia |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
8
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
9
|
(HPO:0200039)
|
Pustule |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
10
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
11
|
(HPO:0001805)
|
Thick nail |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
12
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
14
|
(HPO:0002014)
|
Diarrhea |
Very frequent [Orphanet]
|
|
|
|
225 / 7739
|
15
|
(HPO:0000221)
|
Furrowed tongue |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
16
|
(HPO:0010783)
|
Erythema |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
17
|
(HPO:0000206)
|
Glossitis |
Frequent [Orphanet]
|
|
|
|
9 / 7739
|
18
|
(HPO:0200037)
|
Skin vesicle |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
20
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
21
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
22
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
23
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
24
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
25
|
(HPO:0000224)
|
Decreased taste sensation |
|
|
|
|
6 / 7739
|
26
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
27
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
28
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
29
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
30
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
31
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
32
|
(HPO:0001818)
|
Paronychia |
|
|
|
|
6 / 7739
|
33
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
34
|
(HPO:0002293)
|
Alopecia of scalp |
|
|
|
|
9 / 7739
|
35
|
(HPO:0003282)
|
Low alkaline phosphatase |
|
|
|
|
7 / 7739
|
36
|
(HPO:0004396)
|
Poor appetite |
|
|
|
|
7 / 7739
|
37
|
(HPO:0005401)
|
Recurrent candida infections |
|
|
|
|
4 / 7739
|
38
|
(HPO:0005435)
|
Impaired T cell function |
|
|
|
|
9 / 7739
|
39
|
(HPO:0008230)
|
Decreased testosterone in males |
|
|
|
|
4 / 7739
|
40
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
41
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
42
|
(OMIM)
|
Impaired taste |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Decreased intestinal uptake of zinc |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Bullous, pustular dermatitis of extremities, oral, anal, and genital areas |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Dermatitis, symmetric pattern |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Impaired would healing |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Spongiotic epidermis |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Necrosis with inflammation |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Alopecia of eyebrows |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Alopecia of eyelashes |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Decreased levels of zinc in hair |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Mental lethargy |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Irritibility |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Delayed secondary sexual characteristics in males |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Decreased plasma zinc levels |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Decreased mucosal alkaline phosphatase |
|
|
|
|
1 / 7739
|
57
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
58
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
59
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
60
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
61
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
62
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|