Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
2
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
3
 (HPO:0001738) Exocrine pancreatic insufficiency Occasional [Orphanet] 23 / 7739
4
 (HPO:0012092) Abnormality of exocrine pancreas physiology Occasional [Orphanet] 23869298 IBIS 9 / 7739
5
 (Orphanet:29660) Abnormal hepatic enzymes/transaminases Frequent [Orphanet] 2 / 7739
6
 (HPO:0002644) Abnormality of pelvic girdle bone morphology Frequent [Orphanet] 31 / 7739
7
 (HPO:0002868) Narrow iliac wings Frequent [Orphanet] 15 / 7739
8
 (HPO:0003172) Abnormality of the pubic bone Frequent [Orphanet] 5 / 7739
9
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
10
 (HPO:0004565) Severe platyspondyly Frequent [Orphanet] typical [HPO] 13 / 7739
11
 (HPO:0002594) Pancreatic hypoplasia Occasional [Orphanet] 5 / 7739
12
 (HPO:0100800) Aplasia/Hypoplasia of the pancreas Occasional [Orphanet] 8 / 7739
13
 (HPO:0002718) Recurrent bacterial infections Frequent [Orphanet] 75 / 7739
14
 (HPO:0002719) Recurrent infections Frequent [Orphanet] 107 / 7739
15
 (HPO:0002721) Immunodeficiency Frequent [Orphanet] 97 / 7739
16
 (HPO:0000773) Short ribs Frequent [Orphanet] typical [HPO] 70 / 7739
17
 (HPO:0000888) Horizontal ribs Frequent [Orphanet] typical [HPO] 12 / 7739
18
 (HPO:0005257) Thoracic hypoplasia Frequent [Orphanet] typical [HPO] 79 / 7739
19
 (HPO:0010306) Short thorax Frequent [Orphanet] 10 / 7739
20
 (HPO:0001552) Barrel-shaped chest Frequent [Orphanet] typical [HPO] 31 / 7739
21
 (HPO:0100625) Enlarged thorax Frequent [Orphanet] typical [HPO] 15 / 7739
22
 (HPO:0005978) Type II diabetes mellitus Very frequent [Orphanet] 68 / 7739
23
 (HPO:0000952) Jaundice Occasional [Orphanet] 105 / 7739
24
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
25
 (HPO:0002611) Cholestatic liver disease Occasional [Orphanet] 19 / 7739
26
 (HPO:0012115) Hepatitis Occasional [Orphanet] 24 / 7739
27
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
28
 (HPO:0002673) Coxa valga Frequent [Orphanet] 57 / 7739
29
 (HPO:0002812) Coxa vara Frequent [Orphanet] 58 / 7739
30
 (HPO:0002827) Hip dislocation Frequent [Orphanet] 94 / 7739
31
 (HPO:0005743) Avascular necrosis of the capital femoral epiphysis Frequent [Orphanet] 17 / 7739
32
 (HPO:0010665) Bilateral coxa valga Frequent [Orphanet] 4 / 7739
33
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
34
 (HPO:0001874) Abnormality of neutrophils Frequent [Orphanet] 47 / 7739
35
 (HPO:0001875) Neutropenia Frequent [Orphanet] 83 / 7739
36
 (HPO:0011897) Neutrophillia Frequent [Orphanet] 4 / 7739
37
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
38
 (HPO:0002757) Recurrent fractures Occasional [Orphanet] 47 / 7739
39
 (HPO:0001302) Pachygyria Occasional [Orphanet] 60 / 7739
40
 (HPO:0001339) Lissencephaly Occasional [Orphanet] 30 / 7739
41
 (HPO:0002126) Polymicrogyria Occasional [Orphanet] 64 / 7739
42
 (HPO:0002269) Abnormality of neuronal migration Occasional [Orphanet] 10 / 7739
43
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
44
 (HPO:0007227) Macrogyria Occasional [Orphanet] 9 / 7739
45
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
46
 (HPO:0006554) Acute hepatic failure Frequent [Orphanet] 23869298 IBIS 20 / 7739
47
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 23869298 IBIS 141 / 7739
48
 (HPO:0000938) Osteopenia Very frequent [Orphanet] 23869298 IBIS 138 / 7739
49
 (HPO:0000939) Osteoporosis Very frequent [Orphanet] 129 / 7739
50
 (HPO:0002748) Rickets Very frequent [Orphanet] 41 / 7739
51
 (HPO:0002749) Osteomalacia Very frequent [Orphanet] 24 / 7739
52
 (HPO:0006462) Generalized bone demineralization Very frequent [Orphanet] 11 / 7739
53
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
54
 (HPO:0100626) Chronic hepatic failure Frequent [Orphanet] 7 / 7739
55
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
56
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
57
 (HPO:0002121) Absence seizures Occasional [Orphanet] 62 / 7739
58
 (HPO:0002133) Status epilepticus Occasional [Orphanet] 59 / 7739
59
 (HPO:0011097) Epileptic spasms Occasional [Orphanet] 45 / 7739
60
 (HPO:0011147) Typical absence seizures Occasional [Orphanet] 33 / 7739
61
 (HPO:0002938) Lumbar hyperlordosis Occasional [Orphanet] occasional [HPO] 73 / 7739
62
 (HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
63
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] hallmark [HPO] 54 / 7739
64
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
65
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 23869298 IBIS 358 / 7739
66
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 90 / 7739
67
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
68
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
69
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
70
 (HPO:0009381) Short finger Frequent [Orphanet] 45 / 7739
71
 (HPO:0009803) Short phalanx of finger Frequent [Orphanet] 79 / 7739
72
 (HPO:0011927) Short digit Frequent [Orphanet] 17 / 7739
73
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
74
 (HPO:0100255) Metaphyseal dysplasia Very frequent [Orphanet] hallmark [HPO] 26 / 7739
75
 (HPO:0001249) Intellectual disability Frequent [Orphanet] 1089 / 7739
76
 (HPO:0001263) Global developmental delay Frequent [Orphanet] 853 / 7739
77
 (HPO:0001270) Motor delay Frequent [Orphanet] 322 / 7739
78
 (HPO:0001328) Specific learning disability Frequent [Orphanet] 114 / 7739
79
 (HPO:0001216) Delayed ossification of carpal bones Frequent [Orphanet] typical [HPO] 30 / 7739
80
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
81
 (HPO:0001943) Hypoglycemia Occasional [Orphanet] 131 / 7739
82
 (HPO:0000218) High palate 356 / 7739
83
 (HPO:0002705) High, narrow palate 308 / 7739
84
 (HPO:0000316) Hypertelorism 644 / 7739
85
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
86
 (HPO:0000819) Diabetes mellitus 23869298 IBIS 131 / 7739
87
 (HPO:0001156) Brachydactyly syndrome Frequent [Orphanet] 180 / 7739
88
 (HPO:0001276) Hypertonia 317 / 7739
89
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
90
 (HPO:0000914) Shield chest 14 / 7739
91
 (HPO:0002654) Multiple epiphyseal dysplasia 8 / 7739
92
 (HPO:0002656) Epiphyseal dysplasia 23869298 IBIS 25 / 7739
93
 (HPO:0002910) Elevated hepatic transaminases Frequent [Orphanet] 158 / 7739
94
 (HPO:0003071) Flattened epiphysis 14 / 7739
95
 (HPO:0003272) Abnormality of the hip bone 3 / 7739
96
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
97
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
98
 (HPO:0004236) Irregular carpal bones 3 / 7739
99
 (HPO:0004349) Reduced bone mineral density 165 / 7739
100
 (HPO:0004467) Preauricular pit 39 / 7739
101
 (HPO:0005280) Depressed nasal bridge 381 / 7739
102
 (HPO:0006110) Shortening of all middle phalanges of the fingers 7 / 7739
103
 (HPO:0006274) Reduced pancreatic beta cells 2 / 7739
104
 (HPO:0008134) Irregular tarsal ossification 2 / 7739
105
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
106
 (HPO:0010583) Ivory epiphyses 4 / 7739
107
 (HPO:0010585) Small epiphyses 16 / 7739
108
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
109
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 230 / 7739
110
 (OMIM) Reabsorption of capital femoral epiphyses 1 / 7739
111
 (OMIM) Bowing distal radii and ulnae 1 / 7739
112
 (OMIM) Small flattened epiphyses (distal femora and proximal tibiae) 3 / 7739
113
 (OMIM) Small, irregular carpal centers 1 / 7739
114
 (OMIM) Small, irregular tarsal centers 1 / 7739
115
 (OMIM) Hypoplastic distal and middle phalanges 3 / 7739
116
 (HPO:0100651) Type I diabetes mellitus 44 / 7739
117
 (HPO:0001640) Cardiomegaly 23869298 IBIS 81 / 7739
118
 (HPO:0008278) Cerebellar cortical atrophy 23869298 IBIS 2 / 7739