Symptom Information: Sort according to HPO 

1
 (HPO:0005599) Hypopigmentation of hair Frequent [IBIS] 85 % (n=21) 22649030 IBIS 38 / 7739
2
 (HPO:0002275) Poor motor coordination Frequent [IBIS] 60% (n=52) 20652328; 24077756 IBIS 6 / 7739
3
 (HPO:0001010) Hypopigmentation of the skin Frequent [IBIS] 44 % (n=27) 22649030 IBIS 46 / 7739
4
 (HPO:0002240) Hepatomegaly Frequent [IBIS] 34.8% (n=23) 19841525 IBIS 467 / 7739
5
 (HPO:0002015) Dysphagia Frequent [IBIS] 15879904 IBIS 301 / 7739
6
 (HPO:0001744) Splenomegaly Occasional [IBIS] 21.7% (n=23) 19841525 IBIS 337 / 7739
7
 (HPO:0002019) Constipation Occasional [IBIS] 17.4% (n=23) 19841525 IBIS 194 / 7739
8
 (HPO:0002039) Anorexia Occasional [IBIS] 17.4% (n=23) 19841525; 24077756 IBIS 62 / 7739
9
 (HPO:0002027) Abdominal pain Occasional [IBIS] 13.0% (n=23) 19841525 IBIS 184 / 7739
10
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 25165189 IBIS 33 / 7739
11
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 22903658 IBIS 232 / 7739
12
 (HPO:0000091) Abnormality of the renal tubule Very frequent [Orphanet] 22903658 IBIS 15 / 7739
13
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 22903658 IBIS 169 / 7739
14
 (HPO:0000112) Nephropathy Very frequent [Orphanet] 22903658 IBIS 92 / 7739
15
 (HPO:0000488) Retinopathy Frequent [Orphanet] 17212992 IBIS 75 / 7739
16
 (HPO:0000505) Visual impairment Occasional [Orphanet] 17212992 IBIS 297 / 7739
17
 (HPO:0000613) Photophobia Very frequent [Orphanet] 22903658 IBIS 158 / 7739
18
 (HPO:0000733) Stereotypy Very frequent [Orphanet] 25394439 IBIS 58 / 7739
19
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 22903658 IBIS 141 / 7739
20
 (HPO:0000873) Diabetes insipidus Very frequent [Orphanet] 20733335 IBIS 34 / 7739
21
 (HPO:0001288) Gait disturbance Occasional [Orphanet] 19294426 IBIS 318 / 7739
22
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] hallmark [HPO] 11516611 IBIS 990 / 7739
23
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 25165189 IBIS 859 / 7739
24
 (HPO:0001409) Portal hypertension Occasional [Orphanet] 21360162 IBIS 39 / 7739
25
 (HPO:0001944) Dehydration Very frequent [Orphanet] 22903658 IBIS 59 / 7739
26
 (HPO:0002018) Nausea Very frequent [Orphanet] hallmark [HPO] 19841525 IBIS 44 / 7739
27
 (HPO:0002024) Malabsorption Occasional [Orphanet] 22903658 IBIS 142 / 7739
28
 (HPO:0002148) Hypophosphatemia Very frequent [Orphanet] 22903658 IBIS 43 / 7739
29
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 25165189 IBIS 308 / 7739
30
 (HPO:0002900) Hypokalemia Very frequent [Orphanet] 24255892 IBIS 45 / 7739
31
 (HPO:0003198) Myopathy Very frequent [Orphanet] 25165189 IBIS 151 / 7739
32
 (HPO:0003355) Aminoaciduria Very frequent [Orphanet] 22903658 IBIS 65 / 7739
33
 (HPO:0004322) Short stature Very frequent [Orphanet] 25394439 IBIS 1232 / 7739
34
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 6726525 IBIS 58 / 7739
35
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 7957435 IBIS 81 / 7739
36
 (HPO:0010628) Facial palsy Occasional [Orphanet] occasional [HPO] 11516611 IBIS 146 / 7739
37
 (HPO:0007759) Opacification of the corneal stroma Very frequent [Orphanet] 17212992 IBIS 77 / 7739
38
 (HPO:0007957) Corneal opacity Very frequent [Orphanet] hallmark [HPO] 17212992 IBIS 84 / 7739
39
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 25165189 IBIS 230 / 7739
40
 (HPO:0100651) Type I diabetes mellitus Very frequent [Orphanet] 25165189 IBIS 44 / 7739
41
 (HPO:0002028) Chronic diarrhea Occasional [Orphanet] 11516611 IBIS 51 / 7739
42
 (HPO:0001508) Failure to thrive Very frequent [Orphanet] 22903658 IBIS 454 / 7739
43
 (HPO:0001510) Growth delay Very frequent [Orphanet] 22903658 IBIS 295 / 7739
44
 (HPO:0011968) Feeding difficulties Very frequent [Orphanet] 11516611 IBIS 240 / 7739
45
 (HPO:0010547) Muscle flaccidity Very frequent [Orphanet] 24255892 IBIS 466 / 7739
46
 (HPO:0011496) Corneal neovascularization Very frequent [Orphanet] 25165189 IBIS 7 / 7739
47
 (MedDRA:10043458) Thirst Very frequent [Orphanet] 22903658 IBIS 2 / 7739
48
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 22903658 IBIS 45 / 7739
49
 (HPO:0000135) Hypogonadism Very frequent [Orphanet] 25165189 IBIS 89 / 7739
50
 (HPO:0000823) Delayed puberty Very frequent [Orphanet] 22903658 IBIS 65 / 7739
51
 (HPO:0000103) Polyuria Very frequent [Orphanet] 22903658 IBIS 60 / 7739
52
 (HPO:0000938) Osteopenia Frequent [Orphanet] 24077756 IBIS 138 / 7739
53
 (HPO:0000939) Osteoporosis Frequent [Orphanet] 1233351 IBIS 129 / 7739
54
 (HPO:0002748) Rickets Frequent [Orphanet] 22903658; 24077756 IBIS 41 / 7739
55
 (HPO:0002749) Osteomalacia Frequent [Orphanet] 24077756 IBIS 24 / 7739
56
 (HPO:0003510) Severe short stature Very frequent [Orphanet] 25394439 IBIS 90 / 7739
57
 (HPO:0000124) Renal tubular dysfunction Very frequent [Orphanet] 25165189 IBIS 46 / 7739
58
 (HPO:0011038) Abnormality of renal resorption Very frequent [Orphanet] 25165189 IBIS 6 / 7739
59
 (HPO:0002013) Vomiting Very frequent [Orphanet] 11516611 IBIS 191 / 7739
60
 (HPO:0001945) Fever Occasional [Orphanet] 21750641 IBIS 218 / 7739
61
 (HPO:0002357) Dysphasia Occasional [Orphanet] 25165189 IBIS 33 / 7739
62
 (HPO:0002381) Aphasia Occasional [Orphanet] 25165189 IBIS 27 / 7739
63
 (HPO:0001249) Intellectual disability Occasional [Orphanet] 25394439 IBIS 1089 / 7739
64
 (HPO:0001263) Global developmental delay Occasional [Orphanet] 25394439 IBIS 853 / 7739
65
 (HPO:0001270) Motor delay Occasional [Orphanet] 25165189 IBIS 322 / 7739
66
 (HPO:0001328) Specific learning disability Occasional [Orphanet] 25394439 IBIS 114 / 7739
67
 (HPO:0003473) Fatigable weakness Very frequent [Orphanet] 25715639 IBIS 39 / 7739
68
 (HPO:0001994) Renal Fanconi syndrome 25165189 IBIS 12 / 7739
69
 (HPO:0000708) Behavioral abnormality 25394439 IBIS 212 / 7739
70
 (HPO:0000026) Male hypogonadism 25165189 IBIS 20 / 7739
71
 (HPO:0003251) Male infertility 25165189 IBIS 14 / 7739
72
 (HPO:0010794) Impaired visuospatial constructive cognition 25394439 IBIS 3 / 7739
73
 (HPO:0000726) Dementia 25165189 IBIS 131 / 7739
74
 (HPO:0000787) Nephrolithiasis 19156444 IBIS 78 / 7739
75
 (HPO:0000121) Nephrocalcinosis 22903658 IBIS 57 / 7739
76
 (HPO:0003076) Glycosuria 22903658 IBIS 32 / 7739
77
 (HPO:0001959) Polydipsia 22903658 IBIS 43 / 7739
78
 (HPO:0200020) Corneal erosion 17212992 IBIS 12 / 7739
79
 (HPO:0002007) Frontal bossing 21750641 IBIS 366 / 7739
80
 (HPO:0002902) Hyponatremia 24255892 IBIS 37 / 7739
81
 (HPO:0002516) Increased intracranial pressure 22903658 IBIS 47 / 7739
82
 (HPO:0004325) Decreased body weight 25394439 IBIS 492 / 7739
83
 (HPO:0003109) Hyperphosphaturia 24255892 IBIS 18 / 7739
84
 (HPO:0003646) Bicarbonaturia 24255892 IBIS 3 / 7739
85
 (HPO:0001608) Abnormality of the voice 11516611 IBIS 126 / 7739
86
 (HPO:0001347) Hyperreflexia 7957435 IBIS 363 / 7739
87
 (HPO:0001269) Hemiparesis 7957435 IBIS 51 / 7739
88
 (HPO:0002857) Genu valgum 24077756 IBIS 144 / 7739
89
 (HPO:0000531) Corneal crystals 22903658 IBIS 9 / 7739
90
 (HPO:0012213) Decreased glomerular filtration rate 25394439 IBIS 21 / 7739
91
 (HPO:0100820) Glomerulopathy 25394439 IBIS 46 / 7739
92
 (HPO:0011849) Abnormal bone ossification 24077756 IBIS 35 / 7739
93
 (HPO:0002059) Cerebral atrophy 25394439 IBIS 171 / 7739
94
 (HPO:0002907) Microscopic hematuria 7742221 IBIS 27 / 7739
95
 (HPO:0002500) Abnormality of the cerebral white matter 25165189 IBIS 73 / 7739
96
 (HPO:0001216) Delayed ossification of carpal bones 24077756 IBIS 30 / 7739
97
 (HPO:0001738) Exocrine pancreatic insufficiency 3335962 IBIS 23 / 7739
98
 (HPO:0012093) Abnormality of endocrine pancreas physiology 3307383 IBIS 4 / 7739
99
 (HPO:0003202) Skeletal muscle atrophy 17709758 IBIS 281 / 7739
100
 (HPO:0003358) Elevated intracellular cystine 22903658 IBIS 4 / 7739
101
 (HPO:0003234) Decreased plasma carnitine 22903658 IBIS 9 / 7739
102
 (HPO:0002354) Memory impairment 25165189 IBIS 63 / 7739
103
 (HPO:0011842) Abnormality of skeletal morphology 24077756 IBIS 1 / 7739
104
 (HPO:0002093) Respiratory insufficiency 25165189 IBIS 410 / 7739