Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
2
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
3
 (HPO:0001010) Hypopigmentation of the skin Frequent [Orphanet] 46 / 7739
4
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
5
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
6
 (HPO:0100835) Benign neoplasm of the central nervous system Frequent [Orphanet] 12 / 7739
7
 (HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
8
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
9
 (HPO:0003124) Hypercholesterolemia 53 / 7739
10
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
11
 (HPO:0000121) Nephrocalcinosis Occasional [Orphanet] 57 / 7739
12
 (HPO:0100512) Vitamin D deficiency Frequent [Orphanet] 2 / 7739
13
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
14
 (HPO:0000722) Obsessive-compulsive behavior Frequent [Orphanet] 35 / 7739
15
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
16
 (HPO:0100493) Hypoammonemia Occasional [Orphanet] 1 / 7739
17
 (HPO:0000718) Aggressive behavior 109 / 7739
18
 (HPO:0100716) Self-injurious behavior Frequent [Orphanet] 43 / 7739
19
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
20
 (HPO:0000083) Renal insufficiency Very frequent [Orphanet] 232 / 7739
21
 (HPO:0000557) Buphthalmos Frequent [Orphanet] 16 / 7739
22
 (HPO:0100820) Glomerulopathy Very frequent [Orphanet] 46 / 7739
23
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
24
 (HPO:0001508) Failure to thrive 454 / 7739
25
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
26
 (HPO:0010603) Odontogenic keratocysts of the jaw 3 / 7739
27
 (HPO:0100612) Odontogenic neoplasm Occasional [Orphanet] 5 / 7739
28
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
29
 (HPO:0100825) Cheilitis Occasional [Orphanet] 20 / 7739
30
 (HPO:0010299) Abnormality of dentin Occasional [Orphanet] 9 / 7739
31
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
32
 (HPO:0000873) Diabetes insipidus Occasional [Orphanet] 34 / 7739
33
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
34
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
35
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
36
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
37
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
38
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
39
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
40
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
41
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
42
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
43
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
44
 (HPO:0002827) Hip dislocation 94 / 7739
45
 (HPO:0000028) Cryptorchidism 347 / 7739
46
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
47
 (HPO:0003355) Aminoaciduria 65 / 7739
48
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
49
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
50
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
51
 (HPO:0000704) Periodontitis Occasional [Orphanet] 24 / 7739
52
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
53
 (HPO:0010471) Oligosacchariduria Occasional [Orphanet] 4 / 7739
54
 (HPO:0001944) Dehydration Very frequent [Orphanet] 59 / 7739
55
 (HPO:0000843) Hyperparathyroidism Frequent [Orphanet] 17 / 7739
56
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
57
 (HPO:0000124) Renal tubular dysfunction Very frequent [Orphanet] 46 / 7739
58
 (HPO:0004360) Abnormality of acid-base homeostasis Frequent [Orphanet] 5 / 7739
59
 (HPO:0001249) Intellectual disability 1089 / 7739
60
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
61
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
62
 (HPO:0000733) Stereotypy Very frequent [Orphanet] 58 / 7739
63
 (HPO:0002900) Hypokalemia Frequent [Orphanet] 45 / 7739
64
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
65
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
66
 (HPO:0000568) Microphthalmia 183 / 7739
67
 (HPO:0001284) Areflexia 198 / 7739
68
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
69
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
70
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
71
 (HPO:0002150) Hypercalciuria Very frequent [Orphanet] 45 / 7739
72
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
73
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
74
 (HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
75
 (HPO:0200040) Epidermoid cyst 35 / 7739
76
 (HPO:0000790) Hematuria Occasional [Orphanet] 106 / 7739
77
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
78
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
79
 (HPO:0000615) Abnormality of the pupil Very frequent [Orphanet] 39 / 7739
80
 (HPO:0002002) Deep philtrum Occasional [Orphanet] 42 / 7739
81
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
82
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
83
 (HPO:0000194) Open mouth Occasional [Orphanet] 70 / 7739
84
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
85
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
86
 (HPO:0000689) Dental malocclusion Occasional [Orphanet] 114 / 7739
87
 (HPO:0100530) Abnormality of calcium-phosphate metabolism Frequent [Orphanet] 12 / 7739
88
 (HPO:0000230) Gingivitis Occasional [Orphanet] 31 / 7739
89
 (HPO:0100750) Atelectasis Occasional [Orphanet] 17 / 7739
90
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
91
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
92
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
93
 (HPO:0002902) Hyponatremia Very frequent [Orphanet] 37 / 7739
94
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
95
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
96
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
97
 (HPO:0002748) Rickets 41 / 7739
98
 (HPO:0002749) Osteomalacia 24 / 7739
99
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
100
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
101
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
102
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
103
 (HPO:0000944) Abnormality of the metaphyses Occasional [Orphanet] 141 / 7739
104
 (HPO:0000859) Hyperaldosteronism Occasional [Orphanet] 17 / 7739
105
 (HPO:0000679) Taurodontia Occasional [Orphanet] 27 / 7739
106
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
107
 (HPO:0002148) Hypophosphatemia Occasional [Orphanet] 43 / 7739
108
 (HPO:0000505) Visual impairment 297 / 7739
109
 (HPO:0000519) Congenital cataract 73 / 7739
110
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
111
 (HPO:0000987) Atypical scarring of skin Occasional [Orphanet] 58 / 7739
112
 (HPO:0001225) Wrist swelling 2 / 7739
113
 (HPO:0001319) Neonatal hypotonia 101 / 7739
114
 (HPO:0001482) Subcutaneous nodule 17 / 7739
115
 (HPO:0001994) Renal Fanconi syndrome 12 / 7739
116
 (HPO:0002049) Proximal renal tubular acidosis 8 / 7739
117
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
118
 (HPO:0002756) Pathologic fracture 30 / 7739
119
 (HPO:0003109) Hyperphosphaturia 18 / 7739
120
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
121
 (HPO:0003148) Elevated serum acid phosphatase 7 / 7739
122
 (HPO:0003646) Bicarbonaturia 3 / 7739
123
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
124
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
125
 (HPO:0004639) Elevated amniotic fluid alpha-fetoprotein 2 / 7739
126
 (HPO:0005984) Elevated maternal serum alpha-fetoprotein 2 / 7739
127
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
128
 (HPO:0007109) Periventricular cysts 4 / 7739
129
 (HPO:0007948) Dense posterior cortical cataract 1 / 7739
130
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
131
 (HPO:0100490) Camptodactyly of finger 212 / 7739
132
 (OMIM) Corneal keloid 1 / 7739
133
 (OMIM) Fine lens opacities (carrier females) 1 / 7739
134
 (MedDRA:10038519) Renal rickets 1 / 7739
135
 (OMIM) Finger swelling 5 / 7739
136
 (HPO:0100550) Tendon rupture 17 / 7739
137
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
138
 (OMIM) Increased signal intensity on T(2)-weighted scans in the periventricular and centrum ovale area 1 / 7739
139
 (HPO:0012573) Global proximal tubulopathy 4 / 7739
140
 (OMIM) Elevated serum protein 1 / 7739
141
 (OMIM) Abnormal serum protein electrophoresis (elevated alpha-2 band) 1 / 7739
142
 (OMIM) Deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (PtdIns(4,5)P(2) 5-phosphatase) in cultured fibroblasts 1 / 7739
143
 (HPO:0030089) Abnormal muscle fiber protein expression Occasional [Orphanet] 64 / 7739
144
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
145
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
146
 (HPO:0000159) Abnormality of the lip Occasional [Orphanet] 33 / 7739
147
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
148
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
149
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
150
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
151
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
152
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
153
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
154
 (HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
155
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
156
 (HPO:0000517) Abnormality of the lens Occasional [Orphanet] 12 / 7739
157
 (HPO:0011037) Decreased urine output Occasional [Orphanet] 47 / 7739
158
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
159
 (HPO:0008669) Abnormal spermatogenesis Occasional [Orphanet] 11 / 7739
160
 (HPO:0100613) Death in early adulthood Very frequent [Orphanet] 10 / 7739
161
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
162
 (HPO:0007663) Reduced visual acuity 100 / 7739