Symptom Information: Sort according to HPO 

1
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
2
 (HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
3
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
4
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
5
 (HPO:0000023) Inguinal hernia 181 / 7739
6
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
7
 (HPO:0009743) Distichiasis Occasional [Orphanet] 9 / 7739
8
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
9
 (HPO:0003179) Protrusio acetabuli Occasional [Orphanet] 37 / 7739
10
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
11
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
12
 (HPO:0004599) Absent or minimally ossified vertebral bodies Frequent [Orphanet] 18 / 7739
13
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
14
 (HPO:0000396) Overfolded helix 21 / 7739
15
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
16
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
17
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
18
 (HPO:0100612) Odontogenic neoplasm Occasional [Orphanet] 5 / 7739
19
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
20
 (HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
21
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
22
 (HPO:0002230) Generalized hirsutism 32 / 7739
23
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
24
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
25
 (HPO:0000347) Micrognathia 426 / 7739
26
 (HPO:0000600) Abnormality of the pharynx Frequent [Orphanet] 22 / 7739
27
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
28
 (HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
29
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
30
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
31
 (HPO:0002673) Coxa valga 57 / 7739
32
 (HPO:0002812) Coxa vara 58 / 7739
33
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
34
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
35
 (HPO:0000912) Sprengel anomaly Occasional [Orphanet] 51 / 7739
36
 (HPO:0100813) Testicular torsion Occasional [Orphanet] 3 / 7739
37
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
38
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
39
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
40
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
41
 (HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
42
 (HPO:0001249) Intellectual disability 1089 / 7739
43
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
44
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
45
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
46
 (HPO:0000369) Low-set ears 372 / 7739
47
 (HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
48
 (HPO:0004684) Talipes valgus Very frequent [Orphanet] 28 / 7739
49
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
50
 (HPO:0001265) Hyporeflexia 208 / 7739
51
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
52
 (HPO:0000293) Full cheeks Very frequent [Orphanet] 85 / 7739
53
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
54
 (HPO:0100795) Abnormally straight spine Occasional [Orphanet] 2 / 7739
55
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
56
 (HPO:0001557) Prenatal movement abnormality Occasional [Orphanet] 16 / 7739
57
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
58
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
59
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
60
 (HPO:0003306) Spinal rigidity Frequent [Orphanet] 30 / 7739
61
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
62
 (HPO:0001763) Pes planus Very frequent [Orphanet] 176 / 7739
63
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
64
 (HPO:0001332) Dystonia Occasional [Orphanet] 197 / 7739
65
 (HPO:0008714) Ureterovesical stenosis Occasional [Orphanet] 10 / 7739
66
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
67
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
68
 (HPO:0003198) Myopathy Frequent [Orphanet] 151 / 7739
69
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
70
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
71
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
72
 (HPO:0000294) Low anterior hairline Occasional [Orphanet] 52 / 7739
73
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
74
 (HPO:0003712) Skeletal muscle hypertrophy Frequent [Orphanet] 42 / 7739
75
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
76
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
77
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
78
 (HPO:0002486) Myotonia Very frequent [Orphanet] 29 / 7739
79
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
80
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
81
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
82
 (HPO:0000939) Osteoporosis 129 / 7739
83
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
84
 (HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
85
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
86
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
87
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
88
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
89
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
90
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
91
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
92
 (HPO:0000205) Pursed lips 6 / 7739
93
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
94
 (HPO:0001239) Wrist flexion contracture 13 / 7739
95
 (HPO:0001374) Congenital hip dislocation 51 / 7739
96
 (HPO:0001620) High pitched voice 32 / 7739
97
 (HPO:0001621) Weak voice 5 / 7739
98
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
99
 (HPO:0002751) Kyphoscoliosis 131 / 7739
100
 (HPO:0003016) Metaphyseal widening 41 / 7739
101
 (HPO:0003044) Shoulder flexion contracture 5 / 7739
102
 (HPO:0003273) Hip contracture 30 / 7739
103
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
104
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
105
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
106
 (HPO:0005830) Flexion contracture of toe 9 / 7739
107
 (HPO:0006473) Anterior bowing of long bones 1 / 7739
108
 (HPO:0006499) Abnormality of femoral epiphysis 3 / 7739
109
 (HPO:0007740) Long eyelashes in irregular rows 1 / 7739
110
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
111
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
112
 (OMIM) Normal face at birth 1 / 7739
113
 (OMIM) Sad, fixed facies 1 / 7739
114
 (OMIM) Low hairline 4 / 7739
115
 (OMIM) Fragmentation of femoral epiphyses 1 / 7739
116
 (OMIM) Flattened femoral epiphyses 2 / 7739
117
 (OMIM) Slender diaphysis 1 / 7739
118
 (OMIM) Elbow, knee, shoulder contractures 1 / 7739
119
 (HPO:0100490) Camptodactyly of finger 212 / 7739
120
 (OMIM) EMG - repetitive muscle discharges 1 / 7739
121
 (OMIM) Small, high-pitched voice 1 / 7739
122
 (HPO:0000499) Abnormality of the eyelashes Occasional [Orphanet] 35 / 7739
123
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
124
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
125
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
126
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
127
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
128
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
129
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
130
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
131
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
132
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
133
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
134
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
135
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
136
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
137
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
138
 (HPO:0100851) Abnormal emotion/affect behavior Occasional [Orphanet] 85 / 7739
139
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
140
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
141
 (HPO:0000272) Malar flattening 277 / 7739
142
 (HPO:0009473) Joint contracture of the hand 84 / 7739