Symptom Information: Sort according to HPO 

1
 (HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
2
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
3
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
4
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
5
 (HPO:0002020) Gastroesophageal reflux common [HPO] 20089974 IBIS 101 / 7739
6
 (HPO:0000015) Bladder diverticulum Occasional [Orphanet] frequent [HPO] 20089974 IBIS 15 / 7739
7
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
8
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] typical [HPO] 197 / 7739
9
 (HPO:0000739) Anxiety 80% [HPO] 20089974 IBIS 67 / 7739
10
 (HPO:0010880) Increased nuchal translucency Occasional [Orphanet] 13 / 7739
11
 (HPO:0001970) Tubulointerstitial nephritis Occasional [Orphanet] 27 / 7739
12
 (HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
13
 (HPO:0000089) Renal hypoplasia 78 / 7739
14
 (HPO:0000023) Inguinal hernia occasional [HPO] 181 / 7739
15
 (HPO:0007720) Flat cornea Occasional [Orphanet] 6 / 7739
16
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
17
 (HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
18
 (HPO:0002253) Colonic diverticula 30% [HPO] 20089974 IBIS 12 / 7739
19
 (HPO:0002256) Small bowel diverticula Frequent [Orphanet] 6 / 7739
20
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
21
 (HPO:0000121) Nephrocalcinosis Occasional [Orphanet] 10% [HPO] 20089974 IBIS 57 / 7739
22
 (HPO:0000722) Obsessive-compulsive behavior Frequent [Orphanet] 35 / 7739
23
 (HPO:0008770) Obsessive-compulsive trait 6 / 7739
24
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
25
 (HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
26
 (HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
27
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
28
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] occasional [HPO] 20089974 IBIS 316 / 7739
29
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
30
 (HPO:0000075) Renal duplication Occasional [Orphanet] 5 / 7739
31
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] common [HPO] 20089974 IBIS 56 / 7739
32
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
33
 (HPO:0003072) Hypercalcemia Very frequent [Orphanet] 15% [HPO] 36 / 7739
34
 (HPO:0000455) Broad nasal tip typical [HPO] 67 / 7739
35
 (HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
36
 (HPO:0000343) Long philtrum Very frequent [Orphanet] typical [HPO] 262 / 7739
37
 (HPO:0011968) Feeding difficulties 240 / 7739
38
 (HPO:0001642) Pulmonic stenosis common [HPO] 89 / 7739
39
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
40
 (HPO:0200021) Down-sloping shoulders typical [HPO] 18 / 7739
41
 (HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
42
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
43
 (HPO:0001650) Aortic valve stenosis 49 / 7739
44
 (HPO:0004381) Supravalvular aortic stenosis 75% [HPO] 6 / 7739
45
 (HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
46
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
47
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
48
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
49
 (HPO:0002763) Abnormal cartilage morphology Occasional [Orphanet] 15 / 7739
50
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
51
 (HPO:0001297) Stroke very rare [HPO] 20089974 IBIS 44 / 7739
52
 (HPO:0002140) Ischemic stroke Frequent [Orphanet] 70 / 7739
53
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
54
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 75% [HPO] 20089974 IBIS 131 / 7739
55
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
56
 (HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
57
 (HPO:0100000) Early onset of sexual maturation 50% [HPO] 9 / 7739
58
 (HPO:0003028) Abnormality of the ankles Occasional [Orphanet] 14 / 7739
59
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
60
 (HPO:0002071) Abnormality of extrapyramidal motor function Very frequent [Orphanet] 76 / 7739
61
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] occasional [HPO] 206 / 7739
62
 (HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
63
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
64
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
65
 (HPO:0000668) Hypodontia common [HPO] 20089974 IBIS 81 / 7739
66
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
67
 (HPO:0000486) Strabismus Frequent [Orphanet] common [HPO] 20089974 IBIS 576 / 7739
68
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] frequent [HPO] 20089974 IBIS 524 / 7739
69
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
70
 (HPO:0001249) Intellectual disability common [HPO] 20089974 IBIS 1089 / 7739
71
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
72
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
73
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
74
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
75
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] common [HPO] 20089974 IBIS 990 / 7739
76
 (HPO:0001324) Muscle weakness 859 / 7739
77
 (HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
78
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] occasional [HPO] 52 / 7739
79
 (HPO:0001634) Mitral valve prolapse common [HPO] 20089974 IBIS 69 / 7739
80
 (HPO:0001653) Mitral regurgitation common [HPO] 20089974 IBIS 64 / 7739
81
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
82
 (HPO:0005344) Abnormality of the carotid arteries Occasional [Orphanet] 6 / 7739
83
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
84
 (HPO:0000272) Malar flattening Frequent [Orphanet] occasional [HPO] 277 / 7739
85
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
86
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
87
 (HPO:0000691) Microdontia Frequent [Orphanet] frequent [HPO] 20089974 IBIS 104 / 7739
88
 (HPO:0100240) Synostosis of joints Occasional [Orphanet] 11 / 7739
89
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
90
 (HPO:0002141) Gait imbalance frequent [HPO] 20089974 IBIS 55 / 7739
91
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
92
 (HPO:0004428) Elfin facies Very frequent [Orphanet] 5 / 7739
93
 (HPO:0002150) Hypercalciuria Frequent [Orphanet] 30% [HPO] 45 / 7739
94
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
95
 (HPO:0000627) Posterior embryotoxon Occasional [Orphanet] 15 / 7739
96
 (HPO:0000307) Pointed chin Very frequent [Orphanet] 45 / 7739
97
 (HPO:0001371) Flexion contracture common [HPO] 20089974 IBIS 220 / 7739
98
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
99
 (HPO:0007495) Prematurely aged appearance Occasional [Orphanet] 44 / 7739
100
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
101
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
102
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] common [HPO] 20089974 IBIS 363 / 7739
103
 (HPO:0002267) Exaggerated startle response 42 / 7739
104
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
105
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
106
 (HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
107
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
108
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
109
 (HPO:0000752) Hyperactivity Very frequent [Orphanet] 140 / 7739
110
 (HPO:0007018) Attention deficit hyperactivity disorder frequent [HPO] 20089974 IBIS 56 / 7739
111
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
112
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
113
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
114
 (HPO:0100817) Renovascular hypertension Frequent [Orphanet] 9 / 7739
115
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
116
 (HPO:0001640) Cardiomegaly Occasional [Orphanet] 81 / 7739
117
 (HPO:0000054) Micropenis Occasional [Orphanet] occasional [HPO] 257 / 7739
118
 (HPO:0002019) Constipation Frequent [Orphanet] common [HPO] 20089974 IBIS 194 / 7739
119
 (HPO:0007477) Abnormal dermatoglyphics Occasional [Orphanet] 72 / 7739
120
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] frequent [HPO] 20089974 IBIS 114 / 7739
121
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
122
 (HPO:0000629) Periorbital fullness typical [HPO] 13 / 7739
123
 (HPO:0001513) Obesity Frequent [Orphanet] typical [HPO] 172 / 7739
124
 (HPO:0001582) Redundant skin Frequent [Orphanet] 51 / 7739
125
 (HPO:0002623) Overriding aorta Occasional [Orphanet] 8 / 7739
126
 (HPO:0005990) Thyroid hypoplasia Occasional [Orphanet] 21 / 7739
127
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
128
 (HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
129
 (HPO:0010780) Hyperacusis Very frequent [Orphanet] common [HPO] 20089974 IBIS 5 / 7739
130
 (HPO:0000464) Abnormality of the neck Very frequent [Orphanet] 31 / 7739
131
 (HPO:0001822) Hallux valgus Frequent [Orphanet] typical [HPO] 70 / 7739
132
 (HPO:0100545) Arterial stenosis Frequent [Orphanet] 22 / 7739
133
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] occasional [HPO] 244 / 7739
134
 (HPO:0001631) Atria septal defect Occasional [Orphanet] occasional [HPO] 20089974 IBIS 274 / 7739
135
 (HPO:0000485) Megalocornea Occasional [Orphanet] 26 / 7739
136
 (HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
137
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
138
 (HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
139
 (HPO:0100785) Insomnia Frequent [Orphanet] 18 / 7739
140
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
141
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
142
 (HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 24 / 7739
143
 (HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
144
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
145
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] occasional [HPO] 288 / 7739
146
 (HPO:0000938) Osteopenia common [HPO] 20089974 IBIS 138 / 7739
147
 (HPO:0000939) Osteoporosis common [HPO] 20089974 IBIS 129 / 7739
148
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 10% [HPO] 141 / 7739
149
 (HPO:0001337) Tremor Very frequent [Orphanet] 200 / 7739
150
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
151
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
152
 (HPO:0004322) Short stature Very frequent [Orphanet] common [HPO] 20089974 IBIS 1232 / 7739
153
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
154
 (HPO:0000286) Epicanthus Very frequent [Orphanet] typical [HPO] 371 / 7739
155
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
156
 (HPO:0001388) Joint laxity common [HPO] 20089974 IBIS 117 / 7739
157
 (HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
158
 (HPO:0008661) Urethral stenosis typical [HPO] 9 / 7739
159
 (HPO:0100659) Abnormality of the cerebral vasculature Frequent [Orphanet] 25 / 7739
160
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
161
 (HPO:0000125) Pelvic kidney 10 / 7739
162
 (HPO:0000194) Open mouth typical [HPO] 70 / 7739
163
 (HPO:0000293) Full cheeks typical [HPO] 85 / 7739
164
 (HPO:0000341) Narrow forehead typical [HPO] 96 / 7739
165
 (HPO:0000403) Recurrent otitis media common [HPO] 20089974 IBIS 61 / 7739
166
 (HPO:0000539) Abnormality of refraction occasional [HPO] 6 / 7739
167
 (HPO:0000601) Hypotelorism occasional [HPO] 83 / 7739
168
 (HPO:0000635) Blue irides typical [HPO] 25 / 7739
169
 (HPO:0000646) Amblyopia occasional [HPO] 42 / 7739
170
 (HPO:0000805) Enuresis 11 / 7739
171
 (HPO:0000833) Glucose intolerance 20 / 7739
172
 (HPO:0000977) Soft skin typical [HPO] 23 / 7739
173
 (HPO:0001136) Retinal arteriolar tortuosity occasional [HPO] 5 / 7739
174
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
175
 (HPO:0001321) Cerebellar hypoplasia 15% [HPO] 20089974 IBIS 114 / 7739
176
 (HPO:0001409) Portal hypertension occasional [HPO] 39 / 7739
177
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
178
 (HPO:0001531) Failure to thrive in infancy 70% [HPO] 26 / 7739
179
 (HPO:0001605) Vocal cord paralysis occasional [HPO] 13 / 7739
180
 (HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
181
 (HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
182
 (HPO:0001792) Small nail typical [HPO] 55 / 7739
183
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
184
 (HPO:0001920) Renal artery stenosis rare [HPO] 20089974 IBIS 5 / 7739
185
 (HPO:0002035) Rectal prolapse common [HPO] 20089974 IBIS 11 / 7739
186
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
187
 (HPO:0002183) Phonophobia typical [HPO] 20089974 IBIS 10 / 7739
188
 (HPO:0002216) Premature graying of hair common [HPO] 20089974 IBIS 43 / 7739
189
 (HPO:0002360) Sleep disturbance occasional [HPO] 20089974 IBIS 113 / 7739
190
 (HPO:0002370) Poor coordination 15 / 7739
191
 (HPO:0002608) Celiac disease occasional [HPO] 20089974 IBIS 5 / 7739
192
 (HPO:0002751) Kyphoscoliosis frequent [HPO] 20089974 IBIS 131 / 7739
193
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
194
 (HPO:0003196) Short nose typical [HPO] 264 / 7739
195
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
196
 (HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
197
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
198
 (HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
199
 (HPO:0004764) Myxomatous mitral valve degeneration 20% [HPO] 20089974 IBIS 2 / 7739
200
 (HPO:0004969) Peripheral pulmonary artery stenosis common [HPO] 20089974 IBIS 9 / 7739
201
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
202
 (HPO:0005145) Coronary artery stenosis common [HPO] 20089974 IBIS 5 / 7739
203
 (HPO:0005280) Depressed nasal bridge typical [HPO] 381 / 7739
204
 (HPO:0007099) Arnold-Chiari type I malformation 10% [HPO] 20089974 IBIS 18 / 7739
205
 (HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
206
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
207
 (HPO:0008872) Feeding difficulties in infancy typical [HPO] 153 / 7739
208
 (HPO:0009748) Large earlobe typical [HPO] 27 / 7739
209
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
210
 (HPO:0010662) Abnormality of the diencephalon Occasional [Orphanet] 6 / 7739
211
 (HPO:0010747) Medial flaring of the eyebrow typical [HPO] 4 / 7739
212
 (HPO:0010794) Impaired visuospatial constructive cognition typical [HPO] 20089974 IBIS 3 / 7739
213
 (HPO:0012450) Chronic constipation 10 / 7739
214
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
215
 (MedDRA:10000188) Abnormal weight gain 2 / 7739
216
 (OMIM) Medial eyebrow flare 2 / 7739
217
 (OMIM) Hearing loss, sensorineural, mild to moderate 3 / 7739
218
 (OMIM) Abnormal brain auditory evoked responses (BAER) 1 / 7739
219
 (OMIM) Decreased or absent ipsilateral acoustic reflex response to maximum stimulation 1 / 7739
220
 (OMIM) Stellate pattern of iris 1 / 7739
221
 (OMIM) Altered visual acuity 1 / 7739
222
 (HPO:0000463) Anteverted nares 305 / 7739
223
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
224
 (OMIM) Diverticulosis 2 / 7739
225
 (OMIM) Textured-food intolerance 1 / 7739
226
 (OMIM) Solitary kidney 2 / 7739
227
 (OMIM) Voiding frequency/urgency 1 / 7739
228
 (OMIM) Delayed toilet training 1 / 7739
229
 (OMIM) Joing laxity 1 / 7739
230
 (OMIM) Joint limitation 3 / 7739
231
 (OMIM) Premature aging, mild 1 / 7739
232
 (OMIM) Relative sparing of language 1 / 7739
233
 (OMIM) Poor visual-motor integration (Range 41-80) 1 / 7739
234
 (OMIM) Poor visual-spatial construction 1 / 7739
235
 (OMIM) Hypersensitivity to sound 1 / 7739
236
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
237
 (HPO:0010547) Muscle flaccidity 466 / 7739
238
 (OMIM) Poor balance 2 / 7739
239
 (OMIM) Type I Chiari malformation 1 / 7739
240
 (OMIM) Friendly personality 1 / 7739
241
 (OMIM) Gregarious 1 / 7739
242
 (OMIM) Cocktail party personality 1 / 7739
243
 (OMIM) Strong attraction to music 1 / 7739
244
 (MedDRA:10034912) Phobia 1 / 7739
245
 (OMIM) Harsh, brassy, or hoarse voice 1 / 7739
246
 (OMIM) Early-onset puberty (in 2 of 3 patients) 2 / 7739
247
 (OMIM) Hemizygous deletion at 7q11.23 1 / 7739
248
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
249
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
250
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
251
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
252
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
253
 (HPO:0012437) Abnormal gallbladder morphology Occasional [Orphanet] 17 / 7739
254
 (HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
255
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
256
 (HPO:0008669) Abnormal spermatogenesis Occasional [Orphanet] 11 / 7739
257
 (HPO:0002839) Urinary bladder sphincter dysfunction Frequent [Orphanet] 34 / 7739
258
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
259
 (HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
260
 (HPO:0100613) Death in early adulthood Occasional [Orphanet] 10 / 7739
261
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
262
 (HPO:0011037) Decreased urine output Frequent [Orphanet] 47 / 7739
263
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
264
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
265
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
266
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
267
 (HPO:0001626) Abnormality of the cardiovascular system Very frequent [Orphanet] 73 / 7739
268
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
269
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
270
 (HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
271
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
272
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
273
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
274
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
275
 (HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
276
 (HPO:0030089) Abnormal muscle fiber protein expression Frequent [Orphanet] 64 / 7739
277
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
278
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
279
 (HPO:0000179) Thick lower lip vermilion typical [HPO] 72 / 7739
280
 (HPO:0000973) Cutis laxa typical [HPO] 43 / 7739
281
 (HPO:0001609) Hoarse voice typical [HPO] 34 / 7739
282
 (HPO:0001699) Sudden death very rare [HPO] 34 / 7739
283
 (HPO:0002311) Incoordination frequent [HPO] 84 / 7739
284
 (HPO:0011800) Midface retrusion 221 / 7739