Symptom Information: Sort according to HPO 

1
 (HPO:0001760) Abnormality of the foot Very frequent [IBIS] 95% (n=21) 24289806 IBIS 96 / 7739
2
 (HPO:0003560) Muscular dystrophy Very frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 88 / 7739
3
 (HPO:0002486) Myotonia Very frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 29 / 7739
4
 (HPO:0010628) Facial palsy Frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 146 / 7739
5
 (HPO:0011675) Arrhythmia Very frequent [Orphanet] Very frequent [IBIS] 23717784 IBIS 226 / 7739
6
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 78 / 7739
7
 (HPO:0000518) Cataract Frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 454 / 7739
8
 (HPO:0030319) Weakness of facial musculature Very frequent [IBIS] 24803843 IBIS 4 / 7739
9
 (HPO:0045037) Abnormality of jaw muscles Very frequent [IBIS] 24803843 IBIS 1 / 7739
10
 (HPO:0000802) Impotence Frequent [IBIS] 72% (n=25) 24399868 IBIS 20 / 7739
11
 (HPO:0005750) Contractures of the joints of the lower limbs Frequent [IBIS] 48% (n=21) 24289806 IBIS 5 / 7739
12
 (HPO:0000819) Diabetes mellitus Frequent [IBIS] 24803843 IBIS 131 / 7739
13
 (HPO:0002650) Scoliosis Occasional [IBIS] 14% (n=21) 24289806 IBIS 705 / 7739
14
 (HPO:0003306) Spinal rigidity Occasional [IBIS] 10% (n=21) 24289806 IBIS 30 / 7739
15
 (HPO:0100360) Contractures of the joints of the upper limbs Occasional [IBIS] 10% (n=21) 24289806 IBIS 3 / 7739
16
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 24803843 IBIS 281 / 7739
17
 (HPO:0003700) Generalized amyotrophy Very frequent [Orphanet] Hallmark [HPO] 24803843 IBIS 39 / 7739
18
 (HPO:0100295) Muscle fiber atrophy Very frequent [Orphanet] Hallmark [HPO] 24803843 IBIS 22 / 7739
19
 (HPO:0000818) Abnormality of the endocrine system Frequent [Orphanet] 24399868 IBIS 26 / 7739
20
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 24803843 IBIS 990 / 7739
21
 (HPO:0001324) Muscle weakness Frequent [Orphanet] typical [HPO] 24803843 IBIS 859 / 7739
22
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 20638139 IBIS 44 / 7739
23
 (HPO:0000338) Hypomimic face Very frequent [Orphanet] hallmark [HPO] 20638139 IBIS 8 / 7739
24
 (HPO:0004673) Decreased facial expression Very frequent [Orphanet] hallmark [HPO] 20638139 IBIS 5 / 7739
25
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 24803843 IBIS 410 / 7739
26
 (HPO:0002094) Dyspnea Frequent [Orphanet] 15782610 IBIS 132 / 7739
27
 (HPO:0002098) Respiratory distress Frequent [Orphanet] 24803843 IBIS 75 / 7739
28
 (HPO:0001678) Atrioventricular block Very frequent [Orphanet] hallmark [HPO] 23717784 IBIS 59 / 7739
29
 (HPO:0011710) Bundle branch block Very frequent [Orphanet] 23717784 IBIS 14 / 7739
30
 (HPO:0100335) Non-midline cleft lip Occasional [Orphanet] 24803843 IBIS 12 / 7739
31
 (HPO:0000486) Strabismus Occasional [Orphanet] 20560889 IBIS 576 / 7739
32
 (HPO:0001249) Intellectual disability Frequent [Orphanet] 24803843 IBIS 1089 / 7739
33
 (HPO:0001263) Global developmental delay Frequent [Orphanet] 24803843 IBIS 853 / 7739
34
 (HPO:0001270) Motor delay Frequent [Orphanet] 24803843 IBIS 322 / 7739
35
 (HPO:0001328) Specific learning disability Frequent [Orphanet] 24803843 IBIS 114 / 7739
36
 (HPO:0000029) Testicular atrophy 10397582 IBIS 13 / 7739
37
 (HPO:0000135) Hypogonadism 24399868 IBIS 89 / 7739
38
 (HPO:0001349) Facial diplegia 23622362 IBIS 16 / 7739
39
 (HPO:0001558) Decreased fetal movement 24803843 IBIS 74 / 7739
40
 (HPO:0001561) Polyhydramnios 24803843 IBIS 191 / 7739
41
 (HPO:0002015) Dysphagia 24803843 IBIS 301 / 7739
42
 (HPO:0002059) Cerebral atrophy 24803843 IBIS 171 / 7739
43
 (HPO:0002189) Excessive daytime sleepiness 23430686 IBIS 8 / 7739
44
 (HPO:0002292) Frontal balding 10397582 IBIS 4 / 7739
45
 (HPO:0003272) Abnormality of the hip bone Occasional [Orphanet] 24289806 IBIS 3 / 7739
46
 (HPO:0004749) Atrial flutter 23717784 IBIS 20 / 7739
47
 (HPO:0005110) Atrial fibrillation 23717784 IBIS 71 / 7739
48
 (HPO:0006887) Intellectual disability, progressive 24803843 IBIS 68 / 7739
49
 (HPO:0000722) Obsessive-compulsive behavior 9605719 IBIS 35 / 7739
50
 (HPO:0008770) Obsessive-compulsive trait 9605719 IBIS 6 / 7739
51
 (HPO:0008872) Feeding difficulties in infancy 24803843 IBIS 153 / 7739
52
 (HPO:0010864) Intellectual disability, severe 24803843 IBIS 120 / 7739
53
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 25813338 IBIS 92 / 7739
54
 (HPO:0011705) First degree atrioventricular block 23717784 IBIS 13 / 7739
55
 (HPO:0100543) Cognitive impairment Frequent [Orphanet] 24803843 IBIS 230 / 7739
56
 (HPO:0011968) Feeding difficulties 24803843 IBIS 240 / 7739
57
 (OMIM) Mild cognitive deterioration in adults 24803843 IBIS 1 / 7739
58
 (OMIM) Reduced sleep latency 18195268 IBIS 1 / 7739
59
 (HPO:0001283) Bulbar palsy 24803843 IBIS 31 / 7739
60
 (HPO:0002460) Distal muscle weakness 24803843 IBIS 122 / 7739
61
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 24803843 IBIS 48 / 7739
62
 (HPO:0003701) Proximal muscle weakness 24803843 IBIS 105 / 7739
63
 (HPO:0012036) Sternocleidomastoid amyotrophy 24803843 IBIS 2 / 7739
64
 (HPO:0000708) Behavioral abnormality 24803843 IBIS 212 / 7739
65
 (HPO:0100786) Hypersomnia 24803843 IBIS 4 / 7739
66
 (HPO:0000026) Male hypogonadism 24399868 IBIS 20 / 7739
67
 (HPO:0003324) Generalized muscle weakness 24803843 IBIS 48 / 7739
68
 (HPO:0002643) Neonatal respiratory distress 24803843 IBIS 22 / 7739
69
 (HPO:0001883) Talipes 24803843 IBIS 12 / 7739
70
 (HPO:0000177) Abnormality of upper lip 24803843 IBIS 3 / 7739
71
 (HPO:0001612) Weak cry 24803843 IBIS 17 / 7739
72
 (HPO:0001714) Ventricular hypertrophy 24803843 IBIS 20 / 7739
73
 (HPO:0000508) Ptosis 24803843 IBIS 459 / 7739
74
 (HPO:0001638) Cardiomyopathy 24803843 IBIS 192 / 7739
75
 (HPO:0001644) Dilated cardiomyopathy 24803843 IBIS 141 / 7739
76
 (HPO:0012664) Reduced ejection fraction 23717784 IBIS 32 / 7739
77
 (HPO:0100284) EMG: myotonic discharges 27141276 IBIS 1 / 7739
78
 (HPO:0002494) Abnormal rapid eye movement sleep 18195268 IBIS 4 / 7739
79
 (HPO:0003116) Abnormal echocardiogram 23717784 IBIS 33 / 7739
80
 (HPO:0001634) Mitral valve prolapse 23717784 IBIS 69 / 7739
81
 (HPO:0001288) Gait disturbance 27234310 IBIS 318 / 7739
82
 (HPO:0002500) Abnormality of the cerebral white matter 22290140 IBIS 73 / 7739
83
 (HPO:0000750) Delayed speech and language development 20638139 IBIS 197 / 7739
84
 (HPO:0001762) Talipes equinovarus 24289806 IBIS 309 / 7739
85
 (HPO:0000407) Sensorineural hearing impairment 21777352 IBIS 524 / 7739
86
 (HPO:0000035) Abnormality of the testis 24399868 IBIS 296 / 7739