Symptom Information: Sort according to HPO 

1
 (HPO:0001971) Hypersplenism Very frequent [Orphanet] 8 / 7739
2
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
3
 (HPO:0012371) Hyperplasia of midface Frequent [Orphanet] 10 / 7739
4
 (HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
5
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
6
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
7
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
8
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
9
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
10
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
11
 (HPO:0000505) Visual impairment Occasional [Orphanet] 297 / 7739
12
 (HPO:0005059) Arthralgia/arthritis Occasional [Orphanet] 141 / 7739
13
 (HPO:0000765) Abnormality of the thorax Occasional [Orphanet] 64 / 7739
14
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739
15
 (HPO:0000829) Hypoparathyroidism Occasional [Orphanet] 22 / 7739
16
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
17
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
18
 (HPO:0000582) Upslanted palpebral fissure Frequent [Orphanet] 185 / 7739
19
 (HPO:0002896) Neoplasm of the liver Occasional [Orphanet] 17 / 7739
20
 (HPO:0000819) Diabetes mellitus Occasional [Orphanet] 131 / 7739
21
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
22
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
23
 (HPO:0000642) Red-green dyschromatopsia Occasional [Orphanet] 25 / 7739
24
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
25
 (HPO:0000929) Abnormality of the skull Frequent [Orphanet] 53 / 7739
26
 (HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
27
 (HPO:0002652) Skeletal dysplasia Occasional [Orphanet] 113 / 7739
28
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
29
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
30
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
31
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
32
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
33
 (HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
34
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
35
 (HPO:0004936) Venous thrombosis Occasional [Orphanet] 41 / 7739
36
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
37
 (HPO:0001935) Microcytic anemia Very frequent [Orphanet] 32 / 7739
38
 (HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
39
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
40
 (HPO:0004840) Hypochromic microcytic anemia 15 / 7739
41
 (HPO:0011906) Reduced beta/alpha synthesis ratio 3 / 7739
42
 (HPO:0000504) Abnormality of vision Occasional [Orphanet] 22 / 7739
43
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
44
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
45
 (HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 7739
46
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
47
 (HPO:0011031) Abnormality of iron homeostasis Frequent [Orphanet] 16 / 7739
48
 (HPO:0012437) Abnormal gallbladder morphology Frequent [Orphanet] 17 / 7739
49
 (HPO:0000763) Sensory neuropathy Frequent [Orphanet] 78 / 7739