Symptom Information: Sort according to HPO 

1
 (HPO:0001263) Global developmental delay Very frequent [Orphanet] Very frequent [IBIS] 100% (n=13) 20301352 IBIS 853 / 7739
2
 (HPO:0001290) Generalized hypotonia Very frequent [IBIS] 92% (n=13) 20301352 IBIS 51 / 7739
3
 (HPO:0002880) Respiratory difficulties Frequent [IBIS] 85% (n=13) 20301352 IBIS 15 / 7739
4
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] Frequent [IBIS] 74.6% (n=130) 24731534 IBIS 990 / 7739
5
 (HPO:0001347) Hyperreflexia Frequent [IBIS] 69% (n=13) 20301352 IBIS 363 / 7739
6
 (HPO:0000602) Ophthalmoplegia Frequent [Orphanet] typical [HPO] Frequent [IBIS] 54% (n=13) 20301352 IBIS 56 / 7739
7
 (HPO:0008872) Feeding difficulties in infancy Frequent [IBIS] 45.4% (n=130) 24731534 IBIS 153 / 7739
8
 (HPO:0001332) Dystonia Frequent [IBIS] 44.6% (n=130) 24731534 IBIS 197 / 7739
9
 (HPO:0003487) Babinski sign Frequent [IBIS] 42.3% (n=130) 24731534 IBIS 179 / 7739
10
 (HPO:0000486) Strabismus Very frequent [Orphanet] Frequent [IBIS] 40.9% (n=44) 25351680 IBIS 576 / 7739
11
 (HPO:0001250) Seizures Frequent [Orphanet] Frequent [IBIS] 39.2% (n=130) 24731534 IBIS 1245 / 7739
12
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] Frequent [IBIS] 37.7% (n=130) 24731534 IBIS 410 / 7739
13
 (HPO:0001249) Intellectual disability Very frequent [Orphanet] Frequent [IBIS] 36.9% (n=130) 24731534 IBIS 1089 / 7739
14
 (HPO:0001257) Spasticity Frequent [IBIS] 36.2% (n=130) 24731534 IBIS 251 / 7739
15
 (HPO:0001251) Ataxia Very frequent [Orphanet] hallmark [HPO] Frequent [IBIS] 34.6% (n=130) 24731534 IBIS 413 / 7739
16
 (HPO:0001276) Hypertonia Frequent [IBIS] 33.1% (n=130) 24731534 IBIS 317 / 7739
17
 (HPO:0011471) Gastrostomy tube feeding in infancy Frequent [IBIS] 33% (n=130) 24731534 IBIS 3 / 7739
18
 (HPO:0000597) Ophthalmoparesis Frequent [Orphanet] Frequent [IBIS] 25351680 IBIS 71 / 7739
19
 (HPO:0006801) Hyperactive deep tendon reflexes Occasional [IBIS] 32.3% (n=130) 24731534 IBIS 21 / 7739
20
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] hallmark [HPO] Occasional [IBIS] 26.2% (n=130) 24731534 IBIS 859 / 7739
21
 (HPO:0002033) Poor suck Occasional [IBIS] 24.6% (n=130) 24731534 IBIS 37 / 7739
22
 (HPO:0000648) Optic atrophy Frequent [Orphanet] Occasional [IBIS] 22.5% (n=44) 25351680 IBIS 238 / 7739
23
 (HPO:0000580) Pigmentary retinopathy Occasional [IBIS] 22.5% (n=44) 25351680 IBIS 49 / 7739
24
 (HPO:0002197) Generalized seizures Occasional [IBIS] 22.3% (n=130) 24731534 IBIS 30 / 7739
25
 (HPO:0002883) Hyperventilation Occasional [IBIS] 20% (n=130) 24731534 IBIS 10 / 7739
26
 (HPO:0000365) Hearing impairment Occasional [IBIS] 19.2% (n=130) 24731534 IBIS 539 / 7739
27
 (HPO:0002072) Chorea Occasional [IBIS] 19.2% (n=130) 24731534 IBIS 53 / 7739
28
 (HPO:0002305) Athetosis Occasional [IBIS] 19.2% (n=130) 24731534 IBIS 31 / 7739
29
 (OMIM) Cardiac dysfunction Occasional [IBIS] 17.7% (n=130) 24731534 IBIS 3 / 7739
30
 (HPO:0000407) Sensorineural hearing impairment Occasional [IBIS] 16.9% (n=130) 24731534 IBIS 524 / 7739
31
 (HPO:0001508) Failure to thrive Occasional [IBIS] 16.2% (n=130) 24731534 IBIS 454 / 7739
32
 (HPO:0002104) Apnea Occasional [IBIS] 16.1% (n=130) 24731534 IBIS 106 / 7739
33
 (HPO:0000508) Ptosis Occasional [IBIS] 15.9% (n=44) 25351680 IBIS 459 / 7739
34
 (HPO:0001315) Reduced tendon reflexes Occasional [IBIS] 15.4% (n=130) 24731534 IBIS 160 / 7739
35
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] Occasional [IBIS] 15% (n=13) 20843336 IBIS 129 / 7739
36
 (HPO:0006824) Cranial nerve paralysis Occasional [IBIS] 15% (n=13) 20301352 IBIS 81 / 7739
37
 (HPO:0007359) Focal seizures Occasional [IBIS] 14.6% (n=130) 24731534 IBIS 27 / 7739
38
 (HPO:0002111) Restrictive deficit on pulmonary function testing Occasional [IBIS] 13.8% (n=130) 24731534 IBIS 25 / 7739
39
 (HPO:0000639) Nystagmus Very frequent [Orphanet] Occasional [IBIS] 13.6% (n=44) 25351680 IBIS 555 / 7739
40
 (HPO:0002342) Intellectual disability, moderate Occasional [IBIS] 13.1% (n=130) 24731534 IBIS 37 / 7739
41
 (HPO:0001399) Hepatic failure Occasional [IBIS] 12.3% (n=130) 24731534 IBIS 80 / 7739
42
 (HPO:0000252) Microcephaly Occasional [IBIS] 11.5% (n=130) 24731534 IBIS 832 / 7739
43
 (HPO:0001260) Dysarthria Occasional [IBIS] 11.5% (n=130) 24731534 IBIS 329 / 7739
44
 (HPO:0010864) Intellectual disability, severe Occasional [IBIS] 11.5% (n=130) 24731534 IBIS 120 / 7739
45
 (HPO:0007110) Central hypoventilation Occasional [IBIS] 10% (n=130) 24731534 IBIS 6 / 7739
46
 (HPO:0001270) Motor delay Very frequent [Orphanet] Occasional [IBIS] 9.2% (n=130) 24731534 IBIS 322 / 7739
47
 (HPO:0001639) Hypertrophic cardiomyopathy Occasional [IBIS] 9.2% (n=130) 24731534 IBIS 137 / 7739
48
 (HPO:0002910) Elevated hepatic transaminases Occasional [IBIS] 9.2% (n=130) 24731534 IBIS 158 / 7739
49
 (HPO:0000975) Hyperhidrosis Occasional [IBIS] 9.2% (n=130) 24731534 IBIS 64 / 7739
50
 (HPO:0001256) Intellectual disability, mild Occasional [IBIS] 8.5% (n=130) 24731534 IBIS 141 / 7739
51
 (HPO:0001265) Hyporeflexia Occasional [IBIS] 8% (n=13) 20301352 IBIS 208 / 7739
52
 (HPO:0001761) Pes cavus Occasional [IBIS] 7.7% (n=130) 24731534 IBIS 225 / 7739
53
 (HPO:0009830) Peripheral neuropathy Occasional [IBIS] 6.9% (n=130) 24731534 IBIS 206 / 7739
54
 (HPO:0002650) Scoliosis Occasional [IBIS] 6.9% (n=130) 24731534 IBIS 705 / 7739
55
 (HPO:0000750) Delayed speech and language development Occasional [IBIS] 6.1% (n=130) 24731534 IBIS 197 / 7739
56
 (HPO:0001337) Tremor Occasional [IBIS] 5.4% (n=130) 24731534 IBIS 200 / 7739
57
 (HPO:0012211) Abnormal renal physiology Occasional [IBIS] 5.4% (n=130) 24731534 IBIS 23 / 7739
58
 (HPO:0002375) Hypokinesia Occasional [IBIS] 3.8% (n=130) 24731534 IBIS 25 / 7739
59
 (HPO:0011675) Arrhythmia Occasional [IBIS] 3.8% (n=130) 24731534 IBIS 226 / 7739
60
 (HPO:0002067) Bradykinesia Occasional [IBIS] 3.8% (n=130) 24731534 IBIS 62 / 7739
61
 (HPO:0001397) Hepatic steatosis Occasional [IBIS] 3.1% (n=130) 24731534 IBIS 75 / 7739
62
 (HPO:0001395) Hepatic fibrosis Occasional [IBIS] 3.1% (n=130) 24731534 IBIS 67 / 7739
63
 (HPO:0000733) Stereotypy Occasional [IBIS] 2.3% (n=130) 24731534 IBIS 58 / 7739
64
 (HPO:0002187) Intellectual disability, profound Occasional [IBIS] 2.3% (n=130) 24731534 IBIS 44 / 7739
65
 (HPO:0002360) Sleep disturbance Occasional [IBIS] 2.3% (n=130) 24731534 IBIS 113 / 7739
66
 (HPO:0002240) Hepatomegaly Occasional [IBIS] 1.5% (n=130) 24731534 IBIS 467 / 7739
67
 (HPO:0002179) Opisthotonus Occasional [IBIS] 1.5% (n=130) 24731534 IBIS 35 / 7739
68
 (HPO:0002487) Hyperkinesis Occasional [IBIS] 1.5% (n=130) 24731534 IBIS 7 / 7739
69
 (HPO:0001644) Dilated cardiomyopathy Occasional [IBIS] 1.5% (n=130) 24731534 IBIS 141 / 7739
70
 (HPO:0000405) Conductive hearing impairment Occasional [IBIS] 1.5% (n=130) 24731534 IBIS 164 / 7739
71
 (MedDRA:10013976) Dyspraxia Occasional [IBIS] 1% (n=130) 24731534 IBIS 3 / 7739
72
 (HPO:0011097) Epileptic spasms Frequent [Orphanet] 6.1% (n=130) 24731534 IBIS 45 / 7739
73
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] hallmark [HPO] 20546952 IBIS 327 / 7739
74
 (HPO:0002311) Incoordination Very frequent [Orphanet] 20843336 IBIS 84 / 7739
75
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 20546952 IBIS 230 / 7739
76
 (HPO:0002133) Status epilepticus Frequent [Orphanet] 20843336 IBIS 59 / 7739
77
 (HPO:0001992) Organic aciduria Very frequent [Orphanet] 20546952 IBIS 28 / 7739
78
 (HPO:0002141) Gait imbalance Very frequent [Orphanet] 25351680 IBIS 55 / 7739
79
 (HPO:0002321) Vertigo Very frequent [Orphanet] 10208283 IBIS 58 / 7739
80
 (MedDRA:10063259) Amino acid level increased 20546952 IBIS 1 / 7739
81
 (HPO:0003348) Hyperalaninemia 20546952 IBIS 19 / 7739
82
 (OMIM) Increased urinary lactate 20546952 IBIS 4 / 7739
83
 (HPO:0000618) Blindness 10208283 IBIS 124 / 7739
84
 (HPO:0002017) Nausea and vomiting 10208283 IBIS 134 / 7739
85
 (HPO:0001903) Anemia 10208283 IBIS 289 / 7739
86
 (HPO:0005957) Breathing dysregulation 20546952 IBIS 6 / 7739
87
 (OMIM) Infantile swallowing difficulty 8505474 IBIS 2 / 7739
88
 (HPO:0012195) Irregular respiration 8505474 IBIS 3 / 7739
89
 (HPO:0001336) Myoclonus 7715756 IBIS 115 / 7739
90
 (HPO:0012469) Infantile spasms 12767455 IBIS 18 / 7739
91
 (HPO:0002171) Gliosis 20301352 IBIS 48 / 7739
92
 (HPO:0002151) Increased serum lactate 20301352 IBIS 92 / 7739
93
 (HPO:0002490) Increased CSF lactate 20301352 IBIS 28 / 7739
94
 (HPO:0002928) Decreased activity of the pyruvate dehydrogenase complex 20301352 IBIS 10 / 7739
95
 (HPO:0007146) Bilateral basal ganglia lesions 20301352 IBIS 2 / 7739
96
 (HPO:0012128) Basal ganglia necrosis 20301352 IBIS 3 / 7739
97
 (OMIM) Brainstem lesions, hyperintense on T2-weighted imaging 20301352 IBIS 2 / 7739
98
 (OMIM) Brain MRI shows basal ganglia lesions 20301352 IBIS 3 / 7739
99
 (HPO:0003128) Lactic acidosis 20301352 IBIS 116 / 7739
100
 (OMIM) Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation 20301352 IBIS 2 / 7739
101
 (HPO:0004370) Abnormality of temperature regulation 20301352 IBIS 58 / 7739
102
 (HPO:0000510) Rod-cone dystrophy 20301352 IBIS 266 / 7739
103
 (HPO:0000496) Abnormality of eye movement 20301352 IBIS 79 / 7739
104
 (OMIM) Renal tubulopathy 20301352 IBIS 4 / 7739
105
 (HPO:0000091) Abnormality of the renal tubule 20301352 IBIS 15 / 7739
106
 (OMIM) Dysmotility 25419155 IBIS 3 / 7739
107
 (HPO:0002015) Dysphagia 25419155 IBIS 301 / 7739
108
 (HPO:0002019) Constipation 25419155 IBIS 194 / 7739
109
 (HPO:0002020) Gastroesophageal reflux 25419155 IBIS 101 / 7739
110
 (HPO:0002039) Anorexia 25419155 IBIS 62 / 7739
111
 (HPO:0002793) Abnormal pattern of respiration 25419155 IBIS 26 / 7739
112
 (HPO:0012418) Hypoxemia 25419155 IBIS 18 / 7739
113
 (HPO:0001670) Asymmetric septal hypertrophy 25419155 IBIS 19 / 7739
114
 (HPO:0001629) Ventricular septal defect 25419155 IBIS 316 / 7739
115
 (HPO:0001297) Stroke 25419155 IBIS 44 / 7739
116
 (HPO:0001034) Hypermelanotic macule 25419155 IBIS 22 / 7739
117
 (HPO:0000998) Hypertrichosis 25419155 IBIS 52 / 7739
118
 (HPO:0000100) Nephrotic syndrome 25419155 IBIS 83 / 7739
119
 (HPO:0001994) Renal Fanconi syndrome 25419155 IBIS 12 / 7739
120
 (HPO:0000819) Diabetes mellitus 25419155 IBIS 131 / 7739
121
 (HPO:0002926) Abnormality of thyroid physiology 25419155 IBIS 1 / 7739
122
 (OMIM) Auditory neuropathy 25419155 IBIS 2 / 7739
123
 (HPO:0002721) Immunodeficiency 25419155 IBIS 97 / 7739
124
 (MedDRA:10050012) Bradyphrenia 24731534 IBIS 1 / 7739
125
 (HPO:0001269) Hemiparesis 24731534 IBIS 51 / 7739
126
 (OMIM) Lesions show signal increase on T2- and signal decrease on T1-weighted images 24731534 IBIS 2 / 7739
127
 (HPO:0001298) Encephalopathy 24731534 IBIS 72 / 7739