Symptom Information: Sort according to HPO 

1
 (HPO:0001396) Cholestasis Very frequent [IBIS] Very frequent [Orphanet] 25239142 IBIS 136 / 7739
2
 (HPO:0000124) Renal tubular dysfunction Very frequent [IBIS] Very frequent [Orphanet] 25239142 IBIS 46 / 7739
3
 (HPO:0002803) Congenital contracture Very frequent [IBIS] Very frequent [Orphanet] 25239142 IBIS 45 / 7739
4
 (HPO:0000952) Jaundice Very frequent [IBIS] 25239142 IBIS 105 / 7739
5
 (HPO:0002804) Arthrogryposis multiplex congenita Very frequent [IBIS] 25239142 IBIS 93 / 7739
6
 (HPO:0008064) Ichthyosis Frequent [IBIS] Frequent [Orphanet] 50% 25239142 IBIS 108 / 7739
7
 (HPO:0002756) Pathologic fracture Frequent [IBIS] 50% (n=10) 21150740 IBIS 30 / 7739
8
 (HPO:0001892) Abnormal bleeding Frequent [IBIS] rare [HPO:skoehler] 25239142 IBIS 85 / 7739
9
 (HPO:0003010) Prolonged bleeding time Frequent [IBIS] Frequent [Orphanet] 25239142 IBIS 88 / 7739
10
 (HPO:0001508) Failure to thrive Frequent [IBIS] 25239142 IBIS 454 / 7739
11
 (HPO:0002011) Morphological abnormality of the central nervous system Frequent [IBIS] 25239142 IBIS 5 / 7739
12
 (HPO:0001928) Abnormality of coagulation Frequent [IBIS] 25239142 IBIS 44 / 7739
13
 (HPO:0001884) Talipes calcaneovalgus Occasional [IBIS] 30% (n=10) 21150740 IBIS 14 / 7739
14
 (HPO:0002827) Hip dislocation Occasional [IBIS] 30% (n=10) 21150740 IBIS 94 / 7739
15
 (HPO:0011869) Abnormal platelet function Occasional [IBIS] Very frequent [Orphanet] 25% 25239142 IBIS 12 / 7739
16
 (HPO:0002808) Kyphosis Occasional [IBIS] Occasional [Orphanet] 20% (n=10) 21150740 IBIS 289 / 7739
17
 (HPO:0001274) Agenesis of corpus callosum Occasional [IBIS] 20% 25239142 IBIS 142 / 7739
18
 (MedDRA:10061054) Congenital cardiovascular anomaly Occasional [IBIS] 10% 25239142 IBIS 1 / 7739
19
 (HPO:0001626) Abnormality of the cardiovascular system Occasional [IBIS] 10% 25239142 IBIS 73 / 7739
20
 (HPO:0001838) Rocker bottom foot Frequent[IBIS] Frequent [Orphanet] 40% (n=10) 21150740 IBIS 85 / 7739
21
 (HPO:0000369) Low-set ears 8151641 IBIS 372 / 7739
22
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 26019847 IBIS 524 / 7739
23
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 8151641 IBIS 136 / 7739
24
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 25239142 IBIS 141 / 7739
25
 (HPO:0000873) Diabetes insipidus Frequent [Orphanet] 25239142 IBIS 34 / 7739
26
 (HPO:0001582) Redundant skin Occasional [Orphanet] 8151641 IBIS 51 / 7739
27
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 18972129 IBIS 990 / 7739
28
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 9332665 IBIS 102 / 7739
29
 (HPO:0001631) Atria septal defect 8151641 IBIS 274 / 7739
30
 (HPO:0001903) Anemia Occasional [Orphanet] 26019847 IBIS 289 / 7739
31
 (HPO:0002024) Malabsorption Frequent [Orphanet] 26019847 IBIS 142 / 7739
32
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 25239142 IBIS 467 / 7739
33
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 25239142 IBIS 281 / 7739
34
 (HPO:0001410) Decreased liver function Frequent [Orphanet] 10812557 IBIS 59 / 7739
35
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 8151641 IBIS 308 / 7739
36
 (HPO:0001080) Biliary tract abnormality Frequent [Orphanet] 25239142 IBIS 26 / 7739
37
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 25239142 IBIS 110 / 7739
38
 (HPO:0001945) Fever Frequent [Orphanet] 26019847 IBIS 218 / 7739
39
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 26019847 IBIS 492 / 7739
40
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 25239142 IBIS 275 / 7739
41
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 8151641 IBIS 328 / 7739
42
 (HPO:0000112) Nephropathy 25239142 IBIS 92 / 7739
43
 (HPO:0000121) Nephrocalcinosis 25239142 IBIS 57 / 7739
44
 (HPO:0001263) Global developmental delay 18972129 IBIS 853 / 7739
45
 (HPO:0001339) Lissencephaly rare [HPO:skoehler] 16155421 IBIS 30 / 7739
46
 (HPO:0001942) Metabolic acidosis 10812557 IBIS 81 / 7739
47
 (HPO:0001944) Dehydration 26019847 IBIS 59 / 7739
48
 (HPO:0001947) Renal tubular acidosis 25239142 IBIS 21 / 7739
49
 (HPO:0002611) Cholestatic liver disease 15500499 IBIS 19 / 7739
50
 (HPO:0002908) Conjugated hyperbilirubinemia 18972129 IBIS 21 / 7739
51
 (HPO:0009806) Nephrogenic diabetes insipidus rare [HPO:skoehler] 25239142 IBIS 8 / 7739
52
 (HPO:0200084) Giant cell hepatitis 10812557 IBIS 8 / 7739
53
 (HPO:0000365) Hearing impairment 25239142 IBIS 539 / 7739
54
 (HPO:0100806) Sepsis 25239142 IBIS 48 / 7739
55
 (HPO:0002719) Recurrent infections 25239142 IBIS 107 / 7739
56
 (HPO:0003110) Abnormality of urine homeostasis 25239142 IBIS 9 / 7739
57
 (HPO:0009486) Radial deviation of the hand 25239142 IBIS 13 / 7739
58
 (HPO:0008780) Congenital bilateral hip dislocation 25239142 IBIS 4 / 7739
59
 (HPO:0006380) Knee flexion contracture 25239142 IBIS 56 / 7739
60
 (HPO:0001371) Flexion contracture 25239142 IBIS 220 / 7739
61
 (MedDRA:10048592) Musculoskeletal disorder 25239142 IBIS 1 / 7739
62
 (HPO:0002450) Abnormal motor neuron morphology 25239142 IBIS 2 / 7739
63
 (HPO:0000110) Renal dysplasia 25239142 IBIS 44 / 7739
64
 (HPO:0003073) Hypoalbuminemia 26019847 IBIS 40 / 7739
65
 (HPO:0000114) Proximal tubulopathy 26019847 IBIS 18 / 7739
66
 (HPO:0000093) Proteinuria 26019847 IBIS 169 / 7739
67
 (HPO:0012592) Albuminuria 26019847 IBIS 6 / 7739
68
 (MedDRA:10048709) Urosepsis 26019847 IBIS 3 / 7739
69
 (HPO:0000103) Polyuria 26019847 IBIS 60 / 7739
70
 (HPO:0008872) Feeding difficulties in infancy 26019847 IBIS 153 / 7739
71
 (HPO:0003228) Hypernatremia 26019847 IBIS 12 / 7739
72
 (HPO:0011423) Hyperchloremia 26019847 IBIS 5 / 7739
73
 (HPO:0001273) Abnormality of the corpus callosum 26019847 IBIS 20 / 7739
74
 (HPO:0000938) Osteopenia 25239142 IBIS 138 / 7739
75
 (HPO:0004906) Hypernatremic dehydration 26019847 IBIS 2 / 7739
76
 (HPO:0006571) Reduced number of intrahepatic bile ducts 9332665 IBIS 4 / 7739
77
 (HPO:0001510) Growth delay 9332665 IBIS 295 / 7739
78
 (HPO:0010864) Intellectual disability, severe 9332665 IBIS 120 / 7739
79
 (MedDRA:10001551) Alanine aminotransferase increased 25239142 IBIS 4 / 7739
80
 (MedDRA:10003481) Aspartate aminotransferase increased 25239142 IBIS 4 / 7739
81
 (HPO:0002909) Generalized aminoaciduria 26019847 IBIS 13 / 7739
82
 (HPO:0001999) Abnormal facial shape 26019847 IBIS 169 / 7739
83
 (HPO:0001872) Abnormality of thrombocytes 26019847 IBIS 20 / 7739
84
 (HPO:0002014) Diarrhea 26019847 IBIS 225 / 7739
85
 (HPO:0003076) Glycosuria 26019847 IBIS 32 / 7739
86
 (HPO:0003109) Hyperphosphaturia 26019847 IBIS 18 / 7739
87
 (HPO:0001290) Generalized hypotonia 18972129 IBIS 51 / 7739
88
 (OMIM) Giant cell hepatocytes (1 patient) 8151641 IBIS 2 / 7739
89
 (HPO:0001392) Abnormality of the liver 8151641 IBIS 28 / 7739
90
 (HPO:0001994) Renal Fanconi syndrome 8151641 IBIS 12 / 7739
91
 (HPO:0012573) Global proximal tubulopathy 8151641 IBIS 4 / 7739
92
 (HPO:0002630) Fat malabsorption 8151641 IBIS 11 / 7739