Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
2
 (HPO:0009720) Adenoma sebaceum Frequent [Orphanet] 12 / 7739
3
 (HPO:0100698) Subcutaneous neurofibromas Frequent [Orphanet] 3 / 7739
4
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
5
 (MedDRA:10025421) Macule Occasional [Orphanet] 55 / 7739
6
 (HPO:0100750) Atelectasis Frequent [Orphanet] 17 / 7739
7
 (HPO:0002105) Hemoptysis Occasional [Orphanet] 30 / 7739
8
 (HPO:0012086) Abnormal urinary color Occasional [Orphanet] 19 / 7739
9
 (HPO:0012087) Abnormal mitochondrial shape Occasional [Orphanet] 8 / 7739
10
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
11
 (HPO:0002094) Dyspnea Very frequent [Orphanet] 132 / 7739
12
 (HPO:0002098) Respiratory distress Very frequent [Orphanet] 75 / 7739
13
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
14
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
15
 (HPO:0008940) Generalized lymphadenopathy Frequent [Orphanet] typical [HPO] 14 / 7739
16
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
17
 (HPO:0002248) Hematemesis Occasional [Orphanet] 12 / 7739
18
 (HPO:0002249) Melena Occasional [Orphanet] 11 / 7739
19
 (HPO:0002584) Intestinal bleeding Occasional [Orphanet] occasional [HPO] 16 / 7739
20
 (HPO:0100749) Chest pain Very frequent [Orphanet] 92 / 7739
21
 (HPO:0000648) Optic atrophy Occasional [Orphanet] 238 / 7739
22
 (HPO:0001085) Papilledema Occasional [Orphanet] 31 / 7739
23
 (HPO:0002113) Pulmonary infiltrates Very frequent [Orphanet] 36 / 7739
24
 ([DEL]MedDRA:10011224) Cough Very frequent [Orphanet] 70 / 7739
25
 (HPO:0002102) Pleuritis Occasional [Orphanet] 7 / 7739
26
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
27
 (HPO:0002202) Pleural effusion Occasional [Orphanet] 22 / 7739
28
 (HPO:0010310) Chylothorax Occasional [Orphanet] 6 / 7739
29
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
30
 (HPO:0011848) Abdominal colic Frequent [Orphanet] 8 / 7739
31
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
32
 (HPO:0011947) Respiratory tract infection Occasional [Orphanet] occasional [HPO] 28 / 7739
33
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
34
 (HPO:0000790) Hematuria Frequent [Orphanet] 106 / 7739
35
 (HPO:0002907) Microscopic hematuria Frequent [Orphanet] 27 / 7739
36
 (HPO:0100804) Ungual fibroma Frequent [Orphanet] 2 / 7739
37
 (HPO:0000113) Polycystic kidney dysplasia Frequent [Orphanet] 75 / 7739
38
 (HPO:0002097) Emphysema Frequent [Orphanet] 40 / 7739
39
 (HPO:0001697) Abnormality of the pericardium Occasional [Orphanet] 52 / 7739
40
 (HPO:0001698) Pericardial effusion Occasional [Orphanet] 20 / 7739
41
 (HPO:0001701) Pericarditis Occasional [Orphanet] 13 / 7739
42
 (HPO:0011853) Serous pericardial effusion Occasional [Orphanet] 3 / 7739
43
 (HPO:0009721) Shagreen patch Occasional [Orphanet] 11 / 7739
44
 (HPO:0100763) Abnormality of the lymphatic system Very frequent [Orphanet] 18 / 7739
45
 (HPO:0000003) Multicystic kidney dysplasia Frequent [Orphanet] occasional [HPO] 17 / 7739
46
 (HPO:0000110) Renal dysplasia Frequent [Orphanet] occasional [HPO] 44 / 7739
47
 (HPO:0000800) Cystic renal dysplasia Frequent [Orphanet] occasional [HPO] 31 / 7739
48
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
49
 (HPO:0002121) Absence seizures Occasional [Orphanet] 62 / 7739
50
 (HPO:0002133) Status epilepticus Occasional [Orphanet] 59 / 7739
51
 (HPO:0011097) Epileptic spasms Occasional [Orphanet] 45 / 7739
52
 (HPO:0011147) Typical absence seizures Occasional [Orphanet] 33 / 7739
53
 (HPO:0001004) Lymphedema Occasional [Orphanet] 62 / 7739
54
 (HPO:0009594) Retinal hamartoma Occasional [Orphanet] 5 / 7739
55
 (HPO:0001945) Fever Occasional [Orphanet] 218 / 7739
56
 (HPO:0009726) Renal neoplasm Occasional [Orphanet] 20 / 7739
57
 (HPO:0001249) Intellectual disability Occasional [Orphanet] 1089 / 7739
58
 (HPO:0001263) Global developmental delay Occasional [Orphanet] 853 / 7739
59
 (HPO:0001270) Motor delay Occasional [Orphanet] 322 / 7739
60
 (HPO:0001328) Specific learning disability Occasional [Orphanet] 114 / 7739
61
 (HPO:0003473) Fatigable weakness Occasional [Orphanet] 39 / 7739
62
 (HPO:0002091) Restrictive ventilatory defect Very frequent [Orphanet] 46 / 7739
63
 (HPO:0002111) Restrictive deficit on pulmonary function testing Very frequent [Orphanet] hallmark [HPO] 25 / 7739
64
 (HPO:0006530) Interstitial pulmonary disease Very frequent [Orphanet] 26 / 7739
65
 (Orphanet:7000) Anomalies of eyelids, eyelashes and lacrimal system Occasional [Orphanet] 1 / 7739
66
 (HPO:0000008) Abnormality of female internal genitalia Frequent [Orphanet] 3 / 7739
67
 (HPO:0001034) Hypermelanotic macule Occasional [Orphanet] 22 / 7739
68
 (HPO:0004370) Abnormality of temperature regulation Occasional [Orphanet] 58 / 7739
69
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739