Symptom Information: Sort according to HPO 

1
 (HPO:0001250) Seizures Very frequent [IBIS] Very frequent [Orphanet] 26095523 IBIS 1245 / 7739
2
 (HPO:0001510) Growth delay Very frequent [IBIS] Frequent [Orphanet] 12444382 IBIS 295 / 7739
3
 (HPO:0000726) Dementia Very frequent [IBIS] Very frequent [Orphanet] 26095523 IBIS 131 / 7739
4
 (HPO:0001298) Encephalopathy Very frequent [IBIS] 20973690 IBIS 72 / 7739
5
 (HPO:0002401) Stroke-like episodes Very frequent [IBIS] 26095523 IBIS 10 / 7739
6
 (HPO:0003128) Lactic acidosis Very frequent [IBIS] 26095523 IBIS 116 / 7739
7
 (HPO:0003200) Ragged-red muscle fibers Very frequent [IBIS] 26095523 IBIS 37 / 7739
8
 (HPO:0003737) Mitochondrial myopathy Very frequent [IBIS] 26095523 IBIS 18 / 7739
9
 (HPO:0003546) Exercise intolerance Very frequent [IBIS] 26095523 IBIS 62 / 7739
10
 (HPO:0003388) Easy fatigability Very frequent [IBIS] 12444382 IBIS 34 / 7739
11
 (HPO:0000762) Decreased nerve conduction velocity Frequent [IBIS] Frequent [Orphanet] 77% (n=30) 16682545 IBIS 36 / 7739
12
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [IBIS] Frequent [Orphanet] 77% (n=30) 16682545 IBIS 38 / 7739
13
 (HPO:0003401) Paresthesia Frequent [IBIS] Occasional [Orphanet] 50% (n=30) 16682545 IBIS 42 / 7739
14
 (HPO:0000716) Depression Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 99 / 7739
15
 (HPO:0000739) Anxiety Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 67 / 7739
16
 (HPO:0001324) Muscle weakness Frequent [IBIS] Occasional [Orphanet] 26095523 IBIS 859 / 7739
17
 (HPO:0002354) Memory impairment Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 63 / 7739
18
 (HPO:0001269) Hemiparesis Frequent [IBIS] Very frequent [Orphanet] hallmark [HPO] 26095523 IBIS 51 / 7739
19
 (HPO:0001336) Myoclonus Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 115 / 7739
20
 (HPO:0003477) Peripheral axonal neuropathy Frequent [IBIS] Occasional [Orphanet] 26095523 IBIS 62 / 7739
21
 (HPO:0009830) Peripheral neuropathy Frequent [IBIS] Occasional [Orphanet] 26095523 IBIS 206 / 7739
22
 (HPO:0002013) Vomiting Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 191 / 7739
23
 (HPO:0001328) Specific learning disability Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 114 / 7739
24
 (HPO:0001251) Ataxia Frequent [IBIS] Frequent [Orphanet] typical [HPO] 26095523 IBIS 413 / 7739
25
 (HPO:0000709) Psychosis Frequent [IBIS] Occasional [Orphanet] 26095523 IBIS 61 / 7739
26
 (HPO:0005978) Type II diabetes mellitus Frequent [IBIS] Frequent [Orphanet] 27063563 IBIS 68 / 7739
27
 (HPO:0002015) Dysphagia Frequent [IBIS] Occasional [Orphanet] 25878740 IBIS 301 / 7739
28
 (HPO:0004322) Short stature Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 1232 / 7739
29
 (HPO:0002572) Episodic vomiting Frequent [IBIS] 12444382 IBIS 12 / 7739
30
 (HPO:0004372) Reduced consciousness/confusion Frequent [IBIS] Frequent [Orphanet] 26095523 IBIS 73 / 7739
31
 (OMIM) Episodic sudden headache Frequent [IBIS] 1549215 IBIS 1 / 7739
32
 (HPO:0000365) Hearing impairment Frequent [IBIS] 26095523 IBIS 539 / 7739
33
 (HPO:0000819) Diabetes mellitus Frequent [IBIS] 26095523 IBIS 131 / 7739
34
 (HPO:0000572) Visual loss Frequent [IBIS] 26095523 IBIS 272 / 7739
35
 (HPO:0002135) Basal ganglia calcification Frequent [IBIS] 26095523 IBIS 37 / 7739
36
 (HPO:0001288) Gait disturbance Frequent [IBIS] 26095523 IBIS 318 / 7739
37
 (HPO:0002069) Generalized tonic-clonic seizures Occasional [IBIS] 20% (n=5) 22459315 IBIS 96 / 7739
38
 (MedDRA:10007697) Carpal tunnel syndrome Occasional [IBIS] 9.4% (n=32) 12574954 IBIS 16 / 7739
39
 (HPO:0001270) Motor delay Occasional [IBIS] Frequent [Orphanet] 26095523 IBIS 322 / 7739
40
 (HPO:0011675) Arrhythmia Occasional [IBIS] Occasional [Orphanet] 26095523 IBIS 226 / 7739
41
 (HPO:0000648) Optic atrophy Occasional [IBIS] Occasional [Orphanet] 26095523 IBIS 238 / 7739
42
 (HPO:0001716) Wolff-Parkinson-White syndrome Occasional [IBIS] 26095523 IBIS 21 / 7739
43
 (HPO:0000580) Pigmentary retinopathy Occasional [IBIS] 26095523 IBIS 49 / 7739
44
 (HPO:0000590) Progressive external ophthalmoplegia Occasional [IBIS] 26095523 IBIS 23 / 7739
45
 (HPO:0001638) Cardiomyopathy Occasional [IBIS] 26095523 IBIS 192 / 7739
46
 (HPO:0000112) Nephropathy Occasional [IBIS] 26095523 IBIS 92 / 7739
47
 (HPO:0001045) Vitiligo Occasional [IBIS] 26095523 IBIS 13 / 7739
48
 (HPO:0001970) Tubulointerstitial nephritis Rare [IBIS] Occasional [Orphanet] 2% (n=110) 24516335 IBIS 27 / 7739
49
 (HPO:0000124) Renal tubular dysfunction Rare [IBIS] Occasional [Orphanet] 2% (n=110) 24516335 IBIS 46 / 7739
50
 (HPO:0000608) Macular degeneration Rare [IBIS] Occasional [Orphanet] 15629304 IBIS 36 / 7739
51
 (HPO:0002092) Pulmonary hypertension Rare [IBIS] Occasional [Orphanet] 26095523 IBIS 109 / 7739
52
 (HPO:0000836) Hyperthyroidism Occasional [Orphanet] 11455195 IBIS 25 / 7739
53
 (HPO:0002020) Gastroesophageal reflux Occasional [Orphanet] 19902874 IBIS 101 / 7739
54
 (HPO:0003326) Myalgia Occasional [Orphanet] 19502062 IBIS 143 / 7739
55
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 17410323 IBIS 54 / 7739
56
 (HPO:0012534) Dysesthesia Occasional [Orphanet] 15237727 IBIS 2 / 7739
57
 (HPO:0100646) Thyroiditis Occasional [Orphanet] 26894521 IBIS 11 / 7739
58
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] hallmark [HPO] 12444382 IBIS 990 / 7739
59
 (HPO:0002076) Migraine Very frequent [Orphanet] 23549648 IBIS 41 / 7739
60
 (HPO:0002315) Headache Frquent [IBIS] Very frequent [Orphanet] 1549215 IBIS 175 / 7739
61
 (HPO:0000100) Nephrotic syndrome Occasional [Orphanet] 23774553 IBIS 83 / 7739
62
 (HPO:0000822) Hypertension Occasional [Orphanet] 23846908 IBIS 224 / 7739
63
 (HPO:0002301) Hemiplegia Very frequent [Orphanet] hallmark [HPO] 26095523 IBIS 42 / 7739
64
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 26095523 IBIS 158 / 7739
65
 (HPO:0003287) Abnormality of mitochondrial metabolism Very frequent [Orphanet] 26095523 IBIS 12 / 7739
66
 (HPO:0002133) Status epilepticus Very frequent [Orphanet] 20580320 IBIS 59 / 7739
67
 (HPO:0012047) Hemeralopia Occasional [Orphanet] 2646681 IBIS 7 / 7739
68
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 16009776 IBIS 78 / 7739
69
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 24516335 IBIS 232 / 7739
70
 (HPO:0001639) Hypertrophic cardiomyopathy Occasional [Orphanet] 26095523 IBIS 137 / 7739
71
 (HPO:0001644) Dilated cardiomyopathy Occasional [Orphanet] 26095523 IBIS 141 / 7739
72
 (HPO:0005684) Distal arthrogryposis Occasional [Orphanet] occasional [HPO] 16353243 IBIS 31 / 7739
73
 (HPO:0100820) Glomerulopathy Occasional [Orphanet] 11506292 IBIS 46 / 7739
74
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 9622295 IBIS 281 / 7739
75
 (HPO:0100295) Muscle fiber atrophy Occasional [Orphanet] occasional [HPO] 12444382 IBIS 22 / 7739
76
 (HPO:0007178) Motor polyneuropathy Occasional [Orphanet] 12574954 IBIS 31 / 7739
77
 (HPO:0001508) Failure to thrive Frequent [Orphanet] 12444382 IBIS 454 / 7739
78
 (HPO:0011968) Feeding difficulties Frequent [Orphanet] 12444382 IBIS 240 / 7739
79
 (HPO:0000846) Adrenal insufficiency Occasional [Orphanet] occasional [HPO] 24508408 IBIS 24 / 7739
80
 (HPO:0000853) Goiter Occasional [Orphanet] 17560506 IBIS 39 / 7739
81
 (HPO:0000979) Purpura Occasional [Orphanet] 1865230 IBIS 27 / 7739
82
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 20440095 IBIS 410 / 7739
83
 (HPO:0002094) Dyspnea Frequent [Orphanet] 18181029 IBIS 132 / 7739
84
 (HPO:0002098) Respiratory distress Frequent [Orphanet] 20440095 IBIS 75 / 7739
85
 (HPO:0000998) Hypertrichosis Occasional [Orphanet] 11907964 IBIS 52 / 7739
86
 (HPO:0001007) Hirsutism Occasional [Orphanet] occasional [HPO] 11907964 IBIS 91 / 7739
87
 (HPO:0000505) Visual impairment Occasional [Orphanet] 18591951 IBIS 297 / 7739
88
 (HPO:0000411) Protruding ear Occasional [Orphanet] 12444382 IBIS 140 / 7739
89
 (HPO:0009904) Prominent ear helix Occasional [Orphanet] 24856294 IBIS 8 / 7739
90
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 26960270 IBIS 188 / 7739
91
 (HPO:0001297) Stroke Very frequent [Orphanet] 23549648 IBIS 44 / 7739
92
 (HPO:0002140) Ischemic stroke Very frequent [Orphanet] 26566914 IBIS 70 / 7739
93
 (HPO:0002326) Transient ischemic attack Very frequent [Orphanet] 23677422 IBIS 13 / 7739
94
 (HPO:0004326) Cachexia Frequent [Orphanet] 12444382 IBIS 71 / 7739
95
 (HPO:0000518) Cataract Occasional [Orphanet] 18587274 IBIS 454 / 7739
96
 (HPO:0000544) External ophthalmoplegia Occasional [Orphanet] occasional [HPO] 26095523 IBIS 40 / 7739
97
 (HPO:0000597) Ophthalmoparesis Occasional [Orphanet] 27014580 IBIS 71 / 7739
98
 (HPO:0000602) Ophthalmoplegia Occasional [Orphanet] occasional [HPO] 26095523 IBIS 56 / 7739
99
 (HPO:0001260) Dysarthria Occasional [Orphanet] 18206799 IBIS 329 / 7739
100
 (HPO:0000135) Hypogonadism Occasional [Orphanet] 26095523 IBIS 89 / 7739
101
 (HPO:0000823) Delayed puberty Occasional [Orphanet] 7554321 IBIS 65 / 7739
102
 (HPO:0000508) Ptosis Frequent [Orphanet] 24906873 IBIS 459 / 7739
103
 (HPO:0001488) Bilateral ptosis Frequent [Orphanet] typical [HPO] 27014580 IBIS 42 / 7739
104
 (HPO:0001259) Coma Frequent [Orphanet] 23774553 IBIS 65 / 7739
105
 (HPO:0001289) Confusion Frequent [Orphanet] 21514610 IBIS 36 / 7739
106
 (HPO:0002329) Drowsiness Frequent [Orphanet] 19451268 IBIS 19 / 7739
107
 (HPO:0004360) Abnormality of acid-base homeostasis Occasional [Orphanet] 21656321 IBIS 5 / 7739
108
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 26095523 IBIS 524 / 7739
109
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 12444382 IBIS 134 / 7739
110
 (HPO:0002018) Nausea Frequent [Orphanet] typical [HPO] 12444382 IBIS 44 / 7739
111
 (HPO:0001945) Fever Occasional [Orphanet] 26095523 IBIS 218 / 7739
112
 (HPO:0001249) Intellectual disability Frequent [Orphanet] 9822126 IBIS 1089 / 7739
113
 (HPO:0001263) Global developmental delay Frequent [Orphanet] 12444382 IBIS 853 / 7739
114
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 2206639 IBIS 137 / 7739
115
 (HPO:0000738) Hallucinations Frequent [Orphanet] 15237727 IBIS 60 / 7739
116
 (HPO:0000717) Autism Occasional [Orphanet] 20965148 IBIS 108 / 7739
117
 (HPO:0001678) Atrioventricular block Occasional [Orphanet] 12444382 IBIS 59 / 7739
118
 (HPO:0011710) Bundle branch block Occasional [Orphanet] 9619647 IBIS 14 / 7739
119
 (HPO:0001265) Hyporeflexia Occasional [Orphanet] occasional [HPO] 11993186 IBIS 208 / 7739
120
 (HPO:0001284) Areflexia Occasional [Orphanet] occasional [HPO] 10356136 IBIS 198 / 7739
121
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 15237727 IBIS 160 / 7739
122
 (HPO:0002595) Ileus Occasional [Orphanet] 16087066 IBIS 4 / 7739
123
 (HPO:0100651) Type I diabetes mellitus Occasional [Orphanet] 17285419 IBIS 44 / 7739
124
 (HPO:0002066) Gait ataxia Frequent [Orphanet] typical [HPO] 11993186 IBIS 327 / 7739
125
 (HPO:0002141) Gait imbalance Frequent [Orphanet] 16682545 IBIS 55 / 7739
126
 (HPO:0002321) Vertigo Frequent [Orphanet] 21792976 IBIS 58 / 7739
127
 (HPO:0000093) Proteinuria Occasional [Orphanet] 26095523 IBIS 169 / 7739
128
 (HPO:0001268) Mental deterioration Very frequent [Orphanet] hallmark [HPO] 27063563 IBIS 88 / 7739
129
 (HPO:0002361) Psychomotor deterioration Very frequent [Orphanet] hallmark [HPO] 19451268 IBIS 26 / 7739
130
 (HPO:0002376) Developmental regression Very frequent [Orphanet] 17407476 IBIS 74 / 7739
131
 (HPO:0000649) Abnormality of visual evoked potentials Occasional [Orphanet] 11859287 IBIS 34 / 7739
132
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 12444382 IBIS 106 / 7739
133
 (HPO:0000375) Abnormality of cochlea Frequent [Orphanet] 21792976 IBIS 1 / 7739
134
 (HPO:0008554) Cochlear malformation Frequent [Orphanet] 21792976 IBIS 5 / 7739
135
 (HPO:0011376) Morphological abnormality of the vestibule of the inner ear Frequent [Orphanet] 21792976 IBIS 1 / 7739
136
 (HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21792976 IBIS 21 / 7739
137
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 19496942 IBIS 187 / 7739
138
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 12444382 IBIS 184 / 7739
139
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 10233312 IBIS 80 / 7739
140
 (HPO:0005590) Spotty hypopigmentation Occasional [Orphanet] occasional [HPO] 10233312 IBIS 10 / 7739
141
 (MedDRA:10018852) Haematoma Occasional [Orphanet] 10908920 IBIS 6 / 7739
142
 (HPO:0100753) Schizophrenia Occasional [Orphanet] 9822126 IBIS 20 / 7739
143
 (HPO:0002300) Mutism Occasional [Orphanet] 21514610 IBIS 28 / 7739
144
 (HPO:0002357) Dysphasia Occasional [Orphanet] 24473421 IBIS 33 / 7739
145
 (HPO:0002381) Aphasia Occasional [Orphanet] 26095523 IBIS 27 / 7739
146
 (HPO:0003236) Elevated serum creatine phosphokinase Very frequent [Orphanet] 19722047 IBIS 214 / 7739
147
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 26517220 IBIS 266 / 7739
148
 (HPO:0002019) Constipation Occasional [Orphanet] 9822126 IBIS 194 / 7739
149
 (HPO:0001332) Dystonia Occasional [Orphanet] 10348475 IBIS 197 / 7739
150
 (HPO:0002356) Writer's cramp Occasional [Orphanet] 10348475 IBIS 16 / 7739
151
 (HPO:0000252) Microcephaly Occasional [Orphanet] 18181029 IBIS 832 / 7739
152
 (HPO:0003198) Myopathy Very frequent [Orphanet] 23549648 IBIS 151 / 7739
153
 (HPO:0002039) Anorexia Frequent [Orphanet] 12444382 IBIS 62 / 7739
154
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 12444382 IBIS 644 / 7739
155
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 1865230 IBIS 232 / 7739
156
 (HPO:0001645) Sudden cardiac death Occasional [Orphanet] 18662836 IBIS 84 / 7739
157
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 23243073 IBIS 87 / 7739
158
 (HPO:0006543) Cardiorespiratory arrest Occasional [Orphanet] 20440095 IBIS 11 / 7739
159
 (HPO:0000829) Hypoparathyroidism Occasional [Orphanet] 26095523 IBIS 22 / 7739
160
 (HPO:0001733) Pancreatitis Frequent [Orphanet] 8891562 IBIS 46 / 7739
161
 (HPO:0010783) Erythema Occasional [Orphanet] 26095523 IBIS 138 / 7739
162
 (HPO:0002126) Polymicrogyria Occasional [Orphanet] 24059608 IBIS 64 / 7739
163
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 26095523 IBIS 141 / 7739
164
 (HPO:0002204) Pulmonary embolism Occasional [Orphanet] 17896266 IBIS 26 / 7739
165
 (HPO:0000830) Anterior hypopituitarism Occasional [Orphanet] 12444382 IBIS 9 / 7739
166
 (HPO:0001337) Tremor Occasional [Orphanet] 15237727 IBIS 200 / 7739
167
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 26095523 IBIS 89 / 7739
168
 (HPO:0005671) Bilateral intracranial calcifications Frequent [Orphanet] typical [HPO] 12444382 IBIS 9 / 7739
169
 (HPO:0000408) Progressive sensorineural hearing impairment 11224785 IBIS 28 / 7739
170
 (HPO:0001103) Abnormality of the macula Occasional [Orphanet] 10482110 IBIS 7 / 7739
171
 (HPO:0001123) Visual field defect Frequent [Orphanet] 14607297 IBIS 30 / 7739
172
 (HPO:0001392) Abnormality of the liver Occasional [Orphanet] 12444382 IBIS 28 / 7739
173
 (HPO:0001507) Growth abnormality 12444382 IBIS 36 / 7739
174
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 25878740 IBIS 308 / 7739
175
 (HPO:0002637) Cerebral ischemia Very frequent [Orphanet] 2366606 IBIS 17 / 7739
176
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 16119832 IBIS 50 / 7739
177
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 25086207 IBIS 492 / 7739
178
 (HPO:0008619) Bilateral sensorineural hearing impairment 9845835 IBIS 23 / 7739
179
 (HPO:0012377) Hemianopia 23774553 IBIS 3 / 7739
180
 (HPO:0100704) Cortical visual impairment 26095523 IBIS 28 / 7739
181
 (OMIM) Ragged-red fibers on muscle biopsy 26095523 IBIS 2 / 7739
182
 (HPO:0100543) Cognitive impairment 23549648 IBIS 230 / 7739
183
 (HPO:0002151) Increased serum lactate 23549648 IBIS 92 / 7739
184
 (HPO:0002490) Increased CSF lactate 23549648 IBIS 28 / 7739
185
 (OMIM) Dysmotility 23549648 IBIS 3 / 7739
186
 (HPO:0001824) Weight loss 23549648 IBIS 42 / 7739
187
 (MedDRA:10058799) Mitochondrial encephalomyopathy 26095523 IBIS 5 / 7739
188
 (OMIM) Impaired mitochondrial translation 26095523 IBIS 4 / 7739
189
 (MedDRA:10058092) Multi-organ disorder 26095523 IBIS 1 / 7739
190
 (MedDRA:10059245) Angiopathy 26095523 IBIS 3 / 7739
191
 (HPO:0000114) Proximal tubulopathy 26095523 IBIS 18 / 7739
192
 (HPO:0000097) Focal segmental glomerulosclerosis 26095523 IBIS 37 / 7739
193
 (HPO:0001994) Renal Fanconi syndrome 26095523 IBIS 12 / 7739
194
 (HPO:0012622) Chronic kidney disease 22325939 IBIS 32 / 7739
195
 (HPO:0000044) Hypogonadotrophic hypogonadism 26095523 IBIS 56 / 7739
196
 (HPO:0001903) Anemia 26095523 IBIS 289 / 7739
197
 (HPO:0006335) Persistence of primary teeth 12444382 IBIS 12 / 7739
198
 (HPO:0030516) Homonymous hemianopia 25766436 IBIS 2 / 7739
199
 (HPO:0007787) Posterior subcapsular cataract 24906873 IBIS 20 / 7739
200
 (HPO:0007675) Progressive night blindness 18591951 IBIS 4 / 7739
201
 (HPO:0001751) Vestibular dysfunction 21792976 IBIS 19 / 7739
202
 (HPO:0005102) Cochlear degeneration 21792976 IBIS 5 / 7739
203
 (HPO:0011098) Speech apraxia 24473421 IBIS 9 / 7739
204
 (HPO:0000746) Delusions 15237727 IBIS 21 / 7739
205
 (HPO:0003201) Rhabdomyolysis 20965148 IBIS 27 / 7739
206
 (HPO:0007514) Edema of the dorsum of hands 12444382 IBIS 7 / 7739
207
 (HPO:0001047) Atopic dermatitis 12444382 IBIS 20 / 7739
208
 (HPO:0001146) Pigmentary retinal degeneration 12444382 IBIS 15 / 7739
209
 (MedDRA:10040628) Sialoadenitis 12444382 IBIS 1 / 7739
210
 (HPO:0001657) Prolonged QT interval 17407476 IBIS 33 / 7739
211
 (HPO:0002590) Paralytic ileus 16087066 IBIS 4 / 7739
212
 (HPO:0002240) Hepatomegaly 12444382 IBIS 467 / 7739
213
 (HPO:0002014) Diarrhea 12444382 IBIS 225 / 7739
214
 (MedDRA:10052391) Convulsion in childhood 1865230 IBIS 1 / 7739
215
 (HPO:0012087) Abnormal mitochondrial shape 1865230 IBIS 8 / 7739
216
 (HPO:0008322) Abnormal mitochondrial morphology 1865230 IBIS 8 / 7739
217
 (HPO:0001051) Seborrheic dermatitis 11907964 IBIS 25 / 7739
218
 (HPO:0000989) Pruritus 11907964 IBIS 111 / 7739
219
 (HPO:0001272) Cerebellar atrophy 19536585 IBIS 197 / 7739
220
 (HPO:0001317) Abnormality of the cerebellum 12444382 IBIS 36 / 7739
221
 (HPO:0001712) Left ventricular hypertrophy 23243073 IBIS 76 / 7739
222
 (HPO:0005162) Left ventricular failure 23243073 IBIS 18 / 7739
223
 (HPO:0001271) Polyneuropathy 12444382 IBIS 56 / 7739
224
 (HPO:0012722) Heart block 12444382 IBIS 5 / 7739
225
 (OMIM) Repolarization abnormalities 12444382 IBIS 2 / 7739
226
 (MedDRA:10060840) Ischaemic cerebral infarction 2366606 IBIS 1 / 7739
227
 (HPO:0002902) Hyponatremia 21656321 IBIS 37 / 7739
228
 (HPO:0002153) Hyperkalemia 21656321 IBIS 25 / 7739
229
 (HPO:0001385) Hip dysplasia 12444382 IBIS 242 / 7739
230
 (MedDRA:10025482) Malaise 12444382 IBIS 4 / 7739
231
 (MedDRA:10027926) Monoplegia 12444382 IBIS 1 / 7739
232
 (HPO:0200072) Episodic quadriplegia 12444382 IBIS 4 / 7739
233
 (HPO:0001349) Facial diplegia 12444382 IBIS 16 / 7739
234
 (HPO:0001310) Dysmetria 12444382 IBIS 76 / 7739
235
 (HPO:0000639) Nystagmus 12444382 IBIS 555 / 7739
236
 (HPO:0001347) Hyperreflexia 12444382 IBIS 363 / 7739
237
 (HPO:0001276) Hypertonia 12444382 IBIS 317 / 7739
238
 (HPO:0000751) Personality changes 12444382 IBIS 33 / 7739
239
 (HPO:0002367) Visual hallucinations 12444382 IBIS 8 / 7739
240
 (HPO:0008765) Auditory hallucinations 12444382 IBIS 8 / 7739
241
 (HPO:0000613) Photophobia 12444382 IBIS 158 / 7739
242
 (HPO:0100280) Crohn's disease 12444382 IBIS 3 / 7739
243
 (HPO:0000141) Amenorrhea 12444382 IBIS 16 / 7739
244
 (HPO:0000952) Jaundice 12444382 IBIS 105 / 7739
245
 (HPO:0002948) Vertebral fusion 12444382 IBIS 28 / 7739
246
 (HPO:0002808) Kyphosis 12444382 IBIS 289 / 7739
247
 (HPO:0000470) Short neck 12444382 IBIS 345 / 7739
248
 (HPO:0001845) Overlapping toe 12444382 IBIS 18 / 7739
249
 (HPO:0002023) Anal atresia 12444382 IBIS 135 / 7739
250
 (HPO:0000048) Bifid scrotum 12444382 IBIS 36 / 7739
251
 (HPO:0001998) Neonatal hypoglycemia 12444382 IBIS 22 / 7739
252
 (HPO:0001818) Paronychia 12444382 IBIS 6 / 7739
253
 (HPO:0000217) Xerostomia 12444382 IBIS 35 / 7739
254
 (HPO:0000939) Osteoporosis 12444382 IBIS 129 / 7739