Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
2
 (HPO:0002570) Steatorrhea 31 / 7739
3
 (HPO:0001508) Failure to thrive 454 / 7739
4
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
5
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
6
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
7
 (HPO:0001738) Exocrine pancreatic insufficiency 23 / 7739
8
 (HPO:0012092) Abnormality of exocrine pancreas physiology Very frequent [Orphanet] 9 / 7739
9
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
10
 (HPO:0002719) Recurrent infections 107 / 7739
11
 (HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 44 / 7739
12
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
13
 (HPO:0005257) Thoracic hypoplasia Occasional [Orphanet] 79 / 7739
14
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
15
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
16
 (HPO:0000964) Eczema Frequent [Orphanet] 81 / 7739
17
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
18
 (HPO:0001875) Neutropenia 83 / 7739
19
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
20
 (HPO:0008064) Ichthyosis Frequent [Orphanet] 108 / 7739
21
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 318 / 7739
22
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
23
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
24
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
25
 (HPO:0001972) Macrocytic anemia Frequent [Orphanet] 26 / 7739
26
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
27
 (HPO:0001263) Global developmental delay 853 / 7739
28
 (HPO:0001328) Specific learning disability 114 / 7739
29
 (HPO:0000121) Nephrocalcinosis 57 / 7739
30
 (HPO:0000774) Narrow chest 167 / 7739
31
 (HPO:0000920) Enlargement of the costochondral junction 11 / 7739
32
 (HPO:0001256) Intellectual disability, mild 141 / 7739
33
 (HPO:0001518) Small for gestational age 107 / 7739
34
 (HPO:0001700) Myocardial necrosis 6 / 7739
35
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
36
 (HPO:0002812) Coxa vara 58 / 7739
37
 (HPO:0002863) Myelodysplasia 30 / 7739
38
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
39
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
40
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
41
 (HPO:0004808) Acute myeloid leukemia 14 / 7739
42
 (HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
43
 (HPO:0006461) Proximal femoral epiphysiolysis 5 / 7739
44
 (HPO:0006598) Irregular ossification at anterior rib ends 1 / 7739
45
 (HPO:0008803) Narrow sacroiliac notch 2 / 7739
46
 (HPO:0011904) Persistence of hemoglobin F 5 / 7739
47
 (OMIM) Respiratory distress in neonatal period 1 / 7739
48
 (OMIM) Pancreatic lipomatosis 2 / 7739
49
 (OMIM) Severe fat maldigestion 1 / 7739
50
 (OMIM) Metaphyseal chondrodysplasia of long bones 1 / 7739
51
 (OMIM) Persistent or intermittent neutropenia 1 / 7739
52
 (HPO:0001903) Anemia 289 / 7739
53
 (OMIM) Elevated fetal hemoglobin 2 / 7739
54
 (OMIM) Abnormal fecal fat 1 / 7739
55
 (OMIM) Decreased serum trypsinogen 1 / 7739
56
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
57
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
58
 (HPO:0011830) Abnormality of oral mucosa Occasional [Orphanet] 47 / 7739
59
 (HPO:0001909) Leukemia Occasional [Orphanet] 46 / 7739
60
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
61
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
62
 (HPO:0000907) Anterior rib cupping 6/6 [HPO:probinson] 12 / 7739
63
 (HPO:0003016) Metaphyseal widening 41 / 7739
64
 (HPO:0003411) Proximal femoral metaphyseal irregularity 6/6 [HPO:probinson] 7 / 7739
65
 (HPO:0004979) Metaphyseal sclerosis 5 / 7739