Symptom Information: Sort according to HPO 

1
 (HPO:0001510) Growth delay 295 / 7739
2
 (HPO:0011968) Feeding difficulties 240 / 7739
3
 (HPO:0009830) Peripheral neuropathy Very frequent [Orphanet] 206 / 7739
4
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
5
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
6
 (HPO:0001324) Muscle weakness 859 / 7739
7
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
8
 (HPO:0002615) Hypotension Very frequent [Orphanet] 52 / 7739
9
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
10
 (HPO:0001265) Hyporeflexia 208 / 7739
11
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
12
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
13
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
14
 (HPO:0002311) Incoordination 84 / 7739
15
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
16
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
17
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
18
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
19
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
20
 (HPO:0001100) Heterochromia iridis Occasional [Orphanet] 31 / 7739
21
 (HPO:0002902) Hyponatremia Occasional [Orphanet] 37 / 7739
22
 (HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
23
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
24
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
25
 (HPO:0000615) Abnormality of the pupil Very frequent [Orphanet] 39 / 7739
26
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
27
 (HPO:0010885) Aseptic necrosis Occasional [Orphanet] 24 / 7739
28
 (HPO:0001063) Acrocyanosis Occasional [Orphanet] 56 / 7739
29
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
30
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
31
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
32
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
33
 (HPO:0002047) Malignant hyperthermia Very frequent [Orphanet] 20 / 7739
34
 (HPO:0100820) Glomerulopathy Occasional [Orphanet] 46 / 7739
35
 (HPO:0000096) Glomerulosclerosis 11 / 7739
36
 (HPO:0000224) Decreased taste sensation 6 / 7739
37
 (HPO:0000522) Alacrima 14 / 7739
38
 (HPO:0000712) Emotional lability 44 / 7739
39
 (HPO:0001069) Episodic hyperhidrosis 4 / 7739
40
 (HPO:0001278) Orthostatic hypotension 24 / 7739
41
 (HPO:0001649) Tachycardia 53 / 7739
42
 (HPO:0001954) Episodic fever 27 / 7739
43
 (HPO:0002013) Vomiting 191 / 7739
44
 (HPO:0002014) Diarrhea 225 / 7739
45
 (HPO:0002019) Constipation 194 / 7739
46
 (HPO:0002585) Abnormality of the peritoneum Occasional [Orphanet] 9 / 7739
47
 (HPO:0002821) Neuropathic arthropathy 2 / 7739
48
 (HPO:0003138) Increased blood urea nitrogen 14 / 7739
49
 (HPO:0003259) Elevated serum creatinine 31 / 7739
50
 (HPO:0003387) Decreased number of large peripheral myelinated nerve fibers 11 / 7739
51
 (HPO:0004891) Recurrent infections due to aspiration 1 / 7739
52
 (HPO:0005947) Decreased sensitivity to hypoxemia 1 / 7739
53
 (HPO:0008000) Decreased corneal reflex 2 / 7739
54
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
55
 (HPO:0012211) Abnormal renal physiology 23 / 7739
56
 (OMIM) Pupillary contraction in response to methacholine 1 / 7739
57
 (OMIM) Decreased or absent lingual fungiform papillae 1 / 7739
58
 (HPO:0000875) Episodic hypertension 3 / 7739
59
 (OMIM) Postural hypotension without compensatory tachycardia 1 / 7739
60
 (OMIM) Breath-holding episodes 2 / 7739
61
 (OMIM) Poor oral coordination 1 / 7739
62
 (OMIM) Vomiting crises 1 / 7739
63
 (OMIM) Erythematous skin blotching 1 / 7739
64
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
65
 (HPO:0010547) Muscle flaccidity 466 / 7739
66
 (OMIM) Decreased pain and temperature perception 1 / 7739
67
 (OMIM) Vibratory loss occurs later 1 / 7739
68
 (OMIM) Prominent autonomic manifestations 1 / 7739
69
 (OMIM) Intellect is unimpaired 1 / 7739
70
 (OMIM) Hypoplastic sural nerve 1 / 7739
71
 (OMIM) Decreased myelinated and unmyelinated small fibers 1 / 7739
72
 (OMIM) Decreased large myelinated fibers 1 / 7739
73
 (OMIM) Decreased neurons in spinal sympathetic ganglia 1 / 7739
74
 (OMIM) Decreased neurons in dorsal root ganglia 1 / 7739
75
 (HPO:0002157) Azotemia 3 / 7739
76
 (OMIM) Absent axonal flare response after intradermal histamine injection 2 / 7739
77
 (OMIM) Increased sensitivity to adrenergic and cholinergic agents 1 / 7739
78
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
79
 (HPO:0000077) Abnormality of the kidney Occasional [Orphanet] 73 / 7739
80
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
81
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
82
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
83
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
84
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
85
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
86
 (HPO:0003577) Congenital onset 133 / 7739
87
 (HPO:0003676) Progressive disorder 148 / 7739
88
 (HPO:0012804) Corneal ulceration 6 / 7739