Symptom Information: Sort according to HPO 

1
 (HPO:0000618) Blindness Very frequent [IBIS] Frequent [Orphanet] 26229500; 17594715; 2231654; 26441796; 23188138; 18154657; 17940554 IBIS 124 / 7739
2
 (HPO:0000639) Nystagmus Very frequent [IBIS] Frequent [Orphanet] 26229500; 2231654; 24049434; 23188138; 22876109; 18154657; 9409865; 8636816; 9663233; 17940554 IBIS 555 / 7739
3
 (HPO:0000613) Photophobia Very frequent [IBIS] Frequent [Orphanet] 26229500; 2231654; 24049434; 23188138; 22876109; 18154657; 9409865; 8636816; 9663233; 17940554 IBIS 158 / 7739
4
 (HPO:0005978) Type II diabetes mellitus Very frequent [IBIS] Frequent [Orphanet] 26229500; 11941369; 17594715; 2231654; 24049434; 23188138; 22876109; 18154657; 9066877; 9409865; 8636816; 9663233; 17940554 IBIS 68 / 7739
5
 (HPO:0001956) Truncal obesity Very frequent [IBIS] Very frequent [Orphanet] 26229500; 2231654; 24049434; 23188138; 9409865 IBIS 39 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment Very frequent [IBIS] Very frequent [Orphanet] 26229500; 17594715; 2231654; 24049434; 9066877; 8636816; 9663233; 17940554 IBIS 524 / 7739
7
 (HPO:0000505) Visual impairment Very frequent [IBIS] Frequent [Orphanet] 2231654; 24049434; 23188138; 22876109; 9066877 IBIS 297 / 7739
8
 (HPO:0000548) Cone/cone-rod dystrophy Very frequent [IBIS] 26229500; 17594715; 26441796; 24049434; 23188138; 22876109; 18154657; 9409865; 8636816; 9663233; 17940554 IBIS 47 / 7739
9
 (HPO:0000956) Acanthosis nigricans Frequent [IBIS] Frequent [Orphanet] 26229500; 2231654; 24049434; 23188138; 22876109; 18154657; 9066877; 9409865; 8636816; 9663233; 17940554 IBIS 54 / 7739
10
 (HPO:0002155) Hypertriglyceridemia Frequent [IBIS] Frequent [Orphanet] 26229500; 17594715; 2231654; 24049434; 23188138; 18154657; 9409865; 9409865; 17940554 IBIS 67 / 7739
11
 (HPO:0000083) Renal insufficiency Frequent [IBIS] Occasional [Orphanet] 26229500; 2231654; 23188138; 18154657; 9066877; 9409865; 17940554 IBIS 232 / 7739
12
 (HPO:0001644) Dilated cardiomyopathy Frequent [IBIS] Frequent [Orphanet] 26229500; 11941369; 24049434; 23188138; 23188138; 22876109; 18154657; 9409865; 8636816; 17940554 IBIS 141 / 7739
13
 (HPO:0002205) Recurrent respiratory infections Frequent [IBIS] Frequent [Orphanet] 24049434; 18154657; 17940554 IBIS 254 / 7739
14
 (HPO:0000821) Hypothyroidism Frequent [IBIS] Occasional [Orphanet] 24049434; 26229500; 11941369; 2231654; 23188138; 22876109; 18154657; 9409865; 9409865; 17940554 IBIS 141 / 7739
15
 (HPO:0001263) Global developmental delay Frequent [IBIS] 26229500; 11941369; 23188138; 22876109; 18154657; 9409865; 9409865; 8636816 IBIS 853 / 7739
16
 (HPO:0000408) Progressive sensorineural hearing impairment Frequent [IBIS] 26229500; 26441796; 23188138; 22876109; 18154657; 9409865; 17940554 IBIS 28 / 7739
17
 (HPO:0000824) Growth hormone deficiency Frequent [IBIS] 26229500; 23188138; 18154657; 8418611; 17940554 IBIS 56 / 7739
18
 (HPO:0008915) Childhood-onset truncal obesity Frequent [IBIS] 11941369; 17594715; 18154657; 17940554 IBIS 3 / 7739
19
 (HPO:0002121) Absence seizures Occasional [IBIS] 26229500; 17594715; 23188138; 18154657; 17940554 IBIS 62 / 7739
20
 (HPO:0000572) Visual loss Frequent [Orphanet] 8636816 IBIS 272 / 7739
21
 (HPO:0000556) Retinal dystrophy Very frequent [Orphanet] 22876109; 18154657; 9409865 IBIS 65 / 7739
22
 (HPO:0000789) Infertility Occasional [Orphanet] 26229500; 18154657 IBIS 74 / 7739
23
 (HPO:0001397) Hepatic steatosis Occasional [Orphanet] 17594715; 23652376; 18154657; 9066877; 17940554 IBIS 75 / 7739
24
 (HPO:0001409) Portal hypertension Occasional [Orphanet] 17594715; 18154657; 17940554 IBIS 39 / 7739
25
 (HPO:0003077) Hyperlipidemia Frequent [Orphanet] 26229500; 11941369; 24049434; 23188138; 17940554 IBIS 37 / 7739
26
 (HPO:0003124) Hypercholesterolemia Frequent [Orphanet] 23652376 IBIS 53 / 7739
27
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 18154657; 17940554 IBIS 131 / 7739
28
 (HPO:0100817) Renovascular hypertension Occasional [Orphanet] 9066877 IBIS 9 / 7739
29
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 17594715; 23652376; 9409865; 8636816; 9663233; 17940554 IBIS 467 / 7739
30
 (HPO:0001250) Seizures Occasional [Orphanet] 23652376; 23652376; 23188138 IBIS 1245 / 7739
31
 (HPO:0100820) Glomerulopathy Occasional [Orphanet] 23188138 IBIS 46 / 7739
32
 (HPO:0000138) Ovarian cyst Occasional [Orphanet] occasional [HPO] 26229500; 22876109; 18154657; 17940554 IBIS 25 / 7739
33
 (HPO:0000147) Polycystic ovaries Occasional [Orphanet] 26229500; 22876109 IBIS 18 / 7739
34
 (HPO:0000311) Round face Occasional [Orphanet] 18154657; 17940554 IBIS 104 / 7739
35
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 17594715; 23652376; 18154657; 9066877; 17940554 IBIS 102 / 7739
36
 (HPO:0001596) Alopecia Occasional [Orphanet] 23188138; 18154657; 9409865; 17940554 IBIS 162 / 7739
37
 (HPO:0001007) Hirsutism Occasional [Orphanet] occasional [HPO] 26229500; 18154657; 17940554 IBIS 91 / 7739
38
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 26229500 IBIS 410 / 7739
39
 (HPO:0002098) Respiratory distress Frequent [Orphanet] 8636816 IBIS 75 / 7739
40
 (HPO:0000842) Hyperinsulinemia Frequent [Orphanet] 26229500; 11941369; 17594715; 2231654; 24049434; 23188138; 22876109; 18154657; 8418611; 9066877; 9409865; 9663233; 17940554 IBIS 39 / 7739
41
 (HPO:0002099) Asthma Frequent [Orphanet] 18154657; 9409865 IBIS 62 / 7739
42
 (HPO:0000518) Cataract Frequent [Orphanet] 23652376; 18154657; 17940554 IBIS 454 / 7739
43
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 9066877 IBIS 42 / 7739
44
 (HPO:0000103) Polyuria Occasional [Orphanet] 9066877 IBIS 60 / 7739
45
 (HPO:0000855) Insulin resistance Frequent [Orphanet] 26229500; 24049434; 23652376; 23188138; 22876109; 8418611; 8636816; 17940554 IBIS 32 / 7739
46
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 18154657; 9409865 IBIS 64 / 7739
47
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 17594715; 23652376; 18154657; 9066877; 17940554 IBIS 337 / 7739
48
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 26229500; 23188138; 18154657; 9409865; 9663233; 17940554 IBIS 232 / 7739
49
 (HPO:0004322) Short stature Very frequent [Orphanet] 26229500; 11941369; 2231654; 24049434; 23188138; 22876109; 18154657; 9409865; 9663233; 17940554 IBIS 1232 / 7739
50
 (HPO:0002206) Pulmonary fibrosis Occasional [Orphanet] 23188138; 17940554 IBIS 51 / 7739
51
 (HPO:0009125) Lipodystrophy Occasional [Orphanet] 23188138 IBIS 54 / 7739
52
 (HPO:0008625) Severe sensorineural hearing impairment Very frequent [Orphanet] hallmark [HPO] 17594715; 2231654 IBIS 150 / 7739
53
 (HPO:0008661) Urethral stenosis Occasional [Orphanet] 2231654 IBIS 9 / 7739
54
 (HPO:0001249) Intellectual disability Occasional [Orphanet] 24049434 IBIS 1089 / 7739
55
 (HPO:0001270) Motor delay Occasional [Orphanet] 26441796 IBIS 322 / 7739
56
 (HPO:0001328) Specific learning disability Occasional [Orphanet] 18154657 IBIS 114 / 7739
57
 (HPO:0000123) Nephritis 8636816 IBIS 18 / 7739
58
 (HPO:0000164) Abnormality of the teeth 18154657 IBIS 291 / 7739
59
 (HPO:0000230) Gingivitis 17940554 IBIS 31 / 7739
60
 (HPO:0000388) Otitis media Frequent [Orphanet] 26441796 IBIS 28 / 7739
61
 (HPO:0000523) Subcapsular cataract 18154657 IBIS 12 / 7739
62
 (HPO:0000580) Pigmentary retinopathy 3766665; 9409865 IBIS 49 / 7739
63
 (HPO:0000771) Gynecomastia 23188138; 9409865; 9663233; 17940554 IBIS 53 / 7739
64
 (HPO:0000815) Hypergonadotropic hypogonadism 18154657; 8636816 IBIS 48 / 7739
65
 (HPO:0000822) Hypertension 23188138; 18154657; 9409865; 9409865; 17940554 IBIS 224 / 7739
66
 (HPO:0000858) Menstrual irregularities 22876109; 18154657; 17940554 IBIS 42 / 7739
67
 (HPO:0000873) Diabetes insipidus 23652376; 8556827; 9409865 IBIS 34 / 7739
68
 (HPO:0001763) Pes planus 26229500; 18154657; 17940554 IBIS 176 / 7739
69
 (HPO:0002149) Hyperuricemia 2231654; 9409865 IBIS 37 / 7739
70
 (HPO:0002621) Atherosclerosis 11941369; 9409865 IBIS 33 / 7739
71
 (HPO:0002650) Scoliosis 26229500; 24049434; 23188138; 22876109; 18154657; 9409865; 9409865; 17940554 IBIS 705 / 7739
72
 (HPO:0002808) Kyphosis 26229500; 2231654; 23652376; 9409865; 17940554 IBIS 289 / 7739
73
 (HPO:0002910) Elevated hepatic transaminases 17594715; 23188138; 18154657; 9066877; 9663233; 17940554 IBIS 158 / 7739
74
 (HPO:0003233) Hypoalphalipoproteinemia 18154657 IBIS 18 / 7739
75
 (HPO:0004438) Hyperostosis frontalis interna 2231654; 18154657; 9409865; 17940554 IBIS 2 / 7739
76
 (HPO:0005616) Accelerated skeletal maturation 18154657; 8418611; 9409865; 17940554 IBIS 46 / 7739
77
 (HPO:0006532) Recurrent pneumonia 17594715; 18154657; 17940554 IBIS 48 / 7739
78
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 26229500; 23188138 IBIS 230 / 7739
79
 (HPO:0000546) Retinal degeneration 26229500; 9066877 IBIS 61 / 7739
80
 (HPO:0001392) Abnormality of the liver 26229500; 11941369; 24049434 IBIS 28 / 7739
81
 (HPO:0000077) Abnormality of the kidney 26229500; 24049434; 23188138; 18154657; 9663233 IBIS 73 / 7739
82
 (HPO:0000135) Hypogonadism 26229500; 24049434; 23188138; 18154657 IBIS 89 / 7739
83
 (HPO:0000962) Hyperkeratosis 26229500 IBIS 216 / 7739
84
 (HPO:0000953) Hyperpigmentation of the skin 26229500; 2231654 IBIS 75 / 7739
85
 (HPO:0001735) Acute pancreatitis 26229500; 18154657 IBIS 6 / 7739
86
 (HPO:0030348) Increased circulating androgen level 26229500; 22876109; 18154657; 8636816; 17940554 IBIS 8 / 7739
87
 (HPO:0001395) Hepatic fibrosis 26229500; 23188138; 9066877; 17940554 IBIS 67 / 7739
88
 (HPO:0005576) Tubulointerstitial fibrosis 26229500; 23188138; 9066877; 17940554 IBIS 32 / 7739
89
 (HPO:0002360) Sleep disturbance 26229500; 18154657; 17940554 IBIS 113 / 7739
90
 (HPO:0003074) Hyperglycemia 11941369; 23188138 IBIS 37 / 7739
91
 (HPO:0000026) Male hypogonadism 11941369; 2231654; 23652376; 22876109; 9066877; 17940554 IBIS 20 / 7739
92
 (HPO:0000488) Retinopathy 17594715; 23652376; 9409865 IBIS 75 / 7739
93
 (HPO:0002040) Esophageal varix 17594715; 9066877; 17940554 IBIS 23 / 7739
94
 (HPO:0000010) Recurrent urinary tract infections 17594715; 2231654; 18154657; 17940554 IBIS 56 / 7739
95
 (HPO:0000016) Urinary retention 17594715; 18154657; 17940554 IBIS 7 / 7739
96
 (HPO:0000012) Urinary urgency 17594715; 18154657; 17940554 IBIS 35 / 7739
97
 (HPO:0000020) Urinary incontinence 17594715; 2231654; 23652376; 17940554 IBIS 75 / 7739
98
 (HPO:0002837) Recurrent bronchitis 17594715; 17940554 IBIS 21 / 7739
99
 (MedDRA:10001052) Acute respiratory distress syndrome 17594715; 17940554 IBIS 3 / 7739
100
 (HPO:0006510) Chronic obstructive pulmonary disease 17594715; 23652376; 17940554 IBIS 19 / 7739
101
 (HPO:0001336) Myoclonus 17594715 IBIS 115 / 7739
102
 (HPO:0002293) Alopecia of scalp 2231654 IBIS 9 / 7739
103
 (HPO:0012211) Abnormal renal physiology 2231654 IBIS 23 / 7739
104
 (HPO:0000365) Hearing impairment 2231654; 23652376; 23188138 IBIS 539 / 7739
105
 (HPO:0001072) Thickened skin 2231654; 17940554 IBIS 87 / 7739
106
 (HPO:0003076) Glycosuria 2231654; 23652376; 9066877 IBIS 32 / 7739
107
 (HPO:0012432) Chronic fatigue 2231654 IBIS 5 / 7739
108
 (HPO:0000958) Dry skin 2231654 IBIS 152 / 7739
109
 (HPO:0010955) Dilatation of the bladder 2231654 IBIS 2 / 7739
110
 (HPO:0000470) Short neck 2231654 IBIS 345 / 7739
111
 (HPO:0002751) Kyphoscoliosis 2231654 IBIS 131 / 7739
112
 (HPO:0007787) Posterior subcapsular cataract 2231654; 9409865; 8636816 IBIS 20 / 7739
113
 (HPO:0012795) Abnormality of the optic disc 2231654; 24049434 IBIS 187 / 7739
114
 (HPO:0007703) Abnormality of retinal pigmentation 2231654; 9663233; 17940554 IBIS 21 / 7739
115
 (HPO:0012213) Decreased glomerular filtration rate 2231654; 23652376 IBIS 21 / 7739
116
 (HPO:0012592) Albuminuria 2231654; 23652376 IBIS 6 / 7739
117
 (HPO:0003177) Squared iliac bones 2231654 IBIS 7 / 7739
118
 (HPO:0003368) Abnormality of the femoral head 2231654 IBIS 1 / 7739
119
 (HPO:0000510) Rod-cone dystrophy 26441796; 23652376; 18154657 IBIS 266 / 7739
120
 (HPO:0002370) Poor coordination 26441796 IBIS 15 / 7739
121
 (HPO:0007010) Poor fine motor coordination 26441796 IBIS 4 / 7739
122
 (HPO:0000750) Delayed speech and language development 26441796; 23188138 IBIS 197 / 7739
123
 (HPO:0000708) Behavioral abnormality 26441796 IBIS 212 / 7739
124
 (HPO:0000734) Disinhibition 26441796 IBIS 13 / 7739
125
 (MedDRA:10065954) Stubbornness 26441796 IBIS 5 / 7739
126
 (HPO:0002591) Polyphagia 26441796; 18154657; 17940554 IBIS 25 / 7739
127
 (HPO:0010863) Receptive language delay 26441796 IBIS 2 / 7739
128
 (HPO:0007722) Retinal pigment epithelial atrophy 24049434 IBIS 10 / 7739
129
 (HPO:0000608) Macular degeneration 24049434 IBIS 36 / 7739
130
 (HPO:0007793) Granular macular appearance 24049434; 3766665 IBIS 2 / 7739
131
 (HPO:0007843) Attenuation of retinal blood vessels 24049434; 3766665; 9663233; 17940554 IBIS 25 / 7739
132
 (HPO:0001993) Ketoacidosis 23652376 IBIS 17 / 7739
133
 (HPO:0000648) Optic atrophy 23652376; 3766665 IBIS 238 / 7739
134
 (HPO:0010544) Vertical nystagmus 23652376 IBIS 5 / 7739
135
 (MedDRA:10022478) Insulin C-peptide increased 23652376 IBIS 2 / 7739
136
 (HPO:0012503) Abnormality of the pituitary gland 23652376 IBIS 2 / 7739
137
 (HPO:0000044) Hypogonadotrophic hypogonadism 23652376; 23188138 IBIS 56 / 7739
138
 (HPO:0011210) EEG with occipital slowing 23652376 IBIS 1 / 7739
139
 (HPO:0009830) Peripheral neuropathy 23652376 IBIS 206 / 7739
140
 (HPO:0002495) Impaired vibratory sensation 23652376 IBIS 26 / 7739
141
 (HPO:0010829) Impaired temperature sensation 23652376 IBIS 5 / 7739
142
 (HPO:0000112) Nephropathy 23652376; 17940554 IBIS 92 / 7739
143
 (MedDRA:10017693) Gamma-glutamyltransferase increased 23652376; 23188138; 9066877; 9663233; 17940554 IBIS 2 / 7739
144
 (HPO:0001433) Hepatosplenomegaly 23652376; 17940554 IBIS 78 / 7739
145
 (HPO:0002069) Generalized tonic-clonic seizures 23188138 IBIS 96 / 7739
146
 (HPO:0001723) Restrictive cardiomyopathy 23188138 IBIS 22 / 7739
147
 (HPO:0001685) Myocardial fibrosis 23188138; 8636816 IBIS 30 / 7739
148
 (HPO:0001508) Failure to thrive 23188138 IBIS 454 / 7739
149
 (HPO:0002013) Vomiting 23188138 IBIS 191 / 7739
150
 (HPO:0001698) Pericardial effusion 23188138 IBIS 20 / 7739
151
 (HPO:0011701) Multifocal atrial tachycardia 23188138 IBIS 7 / 7739
152
 (HPO:0011705) First degree atrioventricular block 23188138 IBIS 13 / 7739
153
 (HPO:0012250) ST segment depression 23188138 IBIS 7 / 7739
154
 (HPO:0001541) Ascites 23188138; 9066877 IBIS 94 / 7739
155
 (HPO:0001081) Cholelithiasis 23188138 IBIS 36 / 7739
156
 (HPO:0011227) Elevated C-reactive protein level 23188138 IBIS 55 / 7739
157
 (HPO:0000662) Nyctalopia 22876109; 18154657 IBIS 92 / 7739
158
 (HPO:0001133) Constriction of peripheral visual field 22876109 IBIS 33 / 7739
159
 (HPO:0030084) Clinodactyly 22876109 IBIS 90 / 7739
160
 (HPO:0000486) Strabismus 22876109 IBIS 576 / 7739
161
 (HPO:0000540) Hypermetropia 22876109; 9409865 IBIS 99 / 7739
162
 (HPO:0000602) Ophthalmoplegia 22876109 IBIS 56 / 7739
163
 (HPO:0012813) Unilateral breast hypoplasia 22876109 IBIS 2 / 7739
164
 (HPO:0012330) Pyelonephritis 18154657 IBIS 7 / 7739
165
 (HPO:0009937) Facial hirsutism 18154657 IBIS 4 / 7739
166
 (HPO:0009889) Localized hirsutism 18154657 IBIS 1 / 7739
167
 (HPO:0000093) Proteinuria 18154657 IBIS 169 / 7739
168
 (HPO:0003259) Elevated serum creatinine 18154657; 9066877 IBIS 31 / 7739
169
 (HPO:0003155) Elevated alkaline phosphatase 18154657 IBIS 52 / 7739
170
 (HPO:0012043) Pendular nystagmus 18154657; 9409865 IBIS 11 / 7739
171
 (HPO:0007898) Exudative retinopathy 18154657 IBIS 3 / 7739
172
 (HPO:0005101) High-frequency hearing impairment 18154657 IBIS 16 / 7739
173
 (HPO:0000405) Conductive hearing impairment 18154657; 9409865 IBIS 164 / 7739
174
 (HPO:0009894) Thickened ears 18154657 IBIS 1 / 7739
175
 (HPO:0002292) Frontal balding 18154657; 17940554 IBIS 4 / 7739
176
 (HPO:0001831) Short toe 18154657; 17940554 IBIS 52 / 7739
177
 (HPO:0009381) Short finger 18154657; 17940554 IBIS 45 / 7739
178
 (HPO:0001769) Broad foot 18154657; 17940554 IBIS 31 / 7739
179
 (HPO:0001410) Decreased liver function 18154657 IBIS 59 / 7739
180
 (HPO:0000246) Sinusitis 18154657; 17940554 IBIS 73 / 7739
181
 (HPO:0012387) Bronchitis 18154657 IBIS 8 / 7739
182
 (HPO:0002791) Hypoventilation 18154657 IBIS 10 / 7739
183
 (HPO:0002028) Chronic diarrhea 18154657 IBIS 51 / 7739
184
 (HPO:0002019) Constipation 18154657 IBIS 194 / 7739
185
 (HPO:0002020) Gastroesophageal reflux 18154657 IBIS 101 / 7739
186
 (HPO:0000796) Urethral obstruction 18154657; 17940554 IBIS 3 / 7739
187
 (HPO:0011130) Abnormality of renal calyx morphology 18154657 IBIS 2 / 7739
188
 (HPO:0000072) Hydroureter 18154657 IBIS 146 / 7739
189
 (HPO:0000533) Chorioretinal atrophy 3766665 IBIS 24 / 7739
190
 (HPO:0007702) Pigmentary retinal deposits 3766665 IBIS 5 / 7739
191
 (HPO:0002605) Hepatic necrosis 9066877 IBIS 6 / 7739
192
 (HPO:0001959) Polydipsia 9066877 IBIS 43 / 7739
193
 (HPO:0008669) Abnormal spermatogenesis 9066877 IBIS 11 / 7739
194
 (HPO:0000092) Tubular atrophy 9066877 IBIS 28 / 7739
195
 (HPO:0003270) Abdominal distention 9066877 IBIS 46 / 7739
196
 (HPO:0002018) Nausea 9066877 IBIS 44 / 7739
197
 (HPO:0002248) Hematemesis 9066877 IBIS 12 / 7739
198
 (HPO:0002249) Melena 9066877 IBIS 11 / 7739
199
 (HPO:0002090) Pneumonia 9066877 IBIS 59 / 7739
200
 (HPO:0002878) Respiratory failure 9066877 IBIS 57 / 7739
201
 (HPO:0008897) Postnatal growth retardation 9409865 IBIS 113 / 7739
202
 (HPO:0000050) Hypoplastic male external genitalia 9409865; 17940554 IBIS 10 / 7739
203
 (HPO:0003808) Abnormal muscle tone 9409865 IBIS 3 / 7739
204
 (HPO:0000961) Cyanosis 9409865 IBIS 60 / 7739
205
 (HPO:0001640) Cardiomegaly 9409865; 8636816 IBIS 81 / 7739
206
 (HPO:0000403) Recurrent otitis media 9409865; 17940554 IBIS 61 / 7739
207
 (HPO:0000543) Optic disc pallor 9409865; 8636816; 9663233; 17940554 IBIS 67 / 7739
208
 (HPO:0000630) Abnormality of retinal arteries 9409865 IBIS 1 / 7739
209
 (HPO:0000666) Horizontal nystagmus 9409865; 8636816 IBIS 32 / 7739
210
 (HPO:0007703) Abnormality of retinal pigmentation 9409865 IBIS 21 / 7739
211
 (HPO:0001757) High-frequency sensorineural hearing impairment 9409865; 17940554 IBIS 7 / 7739
212
 (HPO:0001973) Autoimmune thrombocytopenia 9409865 IBIS 18 / 7739
213
 (HPO:0001701) Pericarditis 9409865 IBIS 13 / 7739
214
 (HPO:0002716) Lymphadenopathy 9409865 IBIS 129 / 7739
215
 (HPO:0000670) Carious teeth 9409865 IBIS 145 / 7739
216
 (HPO:0030652) Vitreous haze 9409865 IBIS 1 / 7739
217
 (HPO:0001649) Tachycardia 8636816 IBIS 53 / 7739
218
 (HPO:0001712) Left ventricular hypertrophy 8636816 IBIS 76 / 7739
219
 (HPO:0001667) Right ventricular hypertrophy 8636816 IBIS 23 / 7739
220
 (MedDRA:10057501) Right atrial hypertrophy 8636816 IBIS 2 / 7739
221
 (HPO:0001711) Abnormality of the left ventricle 8636816 IBIS 22 / 7739
222
 (OMIM) Left ventricular dilation 8636816 IBIS 13 / 7739
223
 (HPO:0001706) Endocardial fibroelastosis 9663233 IBIS 20 / 7739
224
 (HPO:0012819) Myocarditis 9663233 IBIS 4 / 7739
225
 (HPO:0001642) Pulmonic stenosis 9663233 IBIS 89 / 7739
226
 (HPO:0001643) Patent ductus arteriosus 9663233 IBIS 228 / 7739
227
 (HPO:0003573) Increased total bilirubin 9663233 IBIS 10 / 7739
228
 (HPO:0000823) Delayed puberty 17940554 IBIS 65 / 7739
229
 (HPO:0000798) Oligospermia 17940554 IBIS 13 / 7739
230
 (HPO:0000029) Testicular atrophy 17940554 IBIS 13 / 7739
231
 (HPO:0010465) Precocious puberty in females 17940554 IBIS 1 / 7739
232
 (HPO:0000134) Female hypogonadism 17940554 IBIS 5 / 7739
233
 (HPO:0008070) Sparse hair 17940554 IBIS 94 / 7739
234
 (HPO:0011073) Abnormality of dental color 17940554 IBIS 24 / 7739
235
 (HPO:0006304) Widely-spaced incisors 17940554 IBIS 2 / 7739
236
 (HPO:0006349) Agenesis of permanent teeth 17940554 IBIS 13 / 7739
237
 (HPO:0011069) Increased number of teeth 17940554 IBIS 39 / 7739
238
 (HPO:0002943) Thoracic scoliosis 17940554 IBIS 12 / 7739
239
 (HPO:0004626) Lumbar scoliosis 17940554 IBIS 5 / 7739
240
 (HPO:0012200) Abnormality of prothrombin 17940554 IBIS 1 / 7739
241
 (HPO:0012115) Hepatitis 17940554 IBIS 24 / 7739
242
 (HPO:0001399) Hepatic failure 17940554 IBIS 80 / 7739
243
 (HPO:0002239) Gastrointestinal hemorrhage 17940554 IBIS 97 / 7739
244
 (HPO:0012786) Recurrent cystitis 17940554 IBIS 1 / 7739
245
 (HPO:0012227) Urethral stricture 17940554 IBIS 5 / 7739
246
 (HPO:0000729) Autistic behavior 17940554 IBIS 27 / 7739
247
 (HPO:0001251) Ataxia 17940554 IBIS 413 / 7739
248
 (HPO:0003326) Myalgia 17940554 IBIS 143 / 7739
249
 (HPO:0011516) Achromatopsia 22876109 IBIS 5 / 7739