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1
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(HPO:0000119)
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Abnormality of the genitourinary system |
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34 / 7739
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2
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(HPO:0000194)
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Open mouth |
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70 / 7739
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3
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(HPO:0000218)
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High palate |
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356 / 7739
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4
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(HPO:0000219)
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Thin upper lip vermilion |
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112 / 7739
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5
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(HPO:0000256)
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Macrocephaly |
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298 / 7739
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6
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(HPO:0000275)
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Narrow face |
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76 / 7739
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7
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(HPO:0000276)
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Long face |
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109 / 7739
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8
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(HPO:0000322)
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Short philtrum |
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130 / 7739
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9
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(HPO:0000327)
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Hypoplasia of the maxilla |
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129 / 7739
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10
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(HPO:0000347)
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Micrognathia |
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426 / 7739
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11
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(HPO:0000369)
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Low-set ears |
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372 / 7739
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12
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(HPO:0000426)
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Prominent nasal bridge |
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121 / 7739
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13
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(HPO:0000446)
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Narrow nasal bridge |
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29 / 7739
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14
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(HPO:0000678)
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Dental crowding |
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65 / 7739
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15
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(HPO:0000709)
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Psychosis |
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61 / 7739
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16
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(HPO:0000712)
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Emotional lability |
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44 / 7739
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17
|
(HPO:0000717)
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Autism |
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|
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108 / 7739
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18
|
(HPO:0000718)
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Aggressive behavior |
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109 / 7739
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19
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(HPO:0000722)
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Obsessive-compulsive behavior |
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35 / 7739
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20
|
(HPO:0000735)
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Impaired social interactions |
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20 / 7739
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21
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(HPO:0000744)
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Low frustration tolerance |
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3 / 7739
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22
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(HPO:0000752)
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Hyperactivity |
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140 / 7739
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23
|
(HPO:0000767)
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Pectus excavatum |
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244 / 7739
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24
|
(HPO:0001166)
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Arachnodactyly |
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62 / 7739
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25
|
(HPO:0100807)
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Long fingers |
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23 / 7739
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26
|
(HPO:0001249)
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Intellectual disability |
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1089 / 7739
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27
|
(HPO:0001250)
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Seizures |
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1245 / 7739
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28
|
(HPO:0001274)
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Agenesis of corpus callosum |
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142 / 7739
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29
|
(HPO:0001290)
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Generalized hypotonia |
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51 / 7739
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30
|
(HPO:0001371)
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Flexion contracture |
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220 / 7739
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31
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(HPO:0001388)
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Joint laxity |
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117 / 7739
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32
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(HPO:0001519)
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Disproportionate tall stature |
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39 / 7739
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33
|
(HPO:0001547)
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Abnormality of the rib cage |
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25 / 7739
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34
|
(HPO:0001611)
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Nasal speech |
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48 / 7739
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35
|
(HPO:0001629)
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Ventricular septal defect |
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316 / 7739
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36
|
(HPO:0001631)
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Atria septal defect |
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274 / 7739
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37
|
(HPO:0002002)
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Deep philtrum |
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42 / 7739
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38
|
(HPO:0002007)
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Frontal bossing |
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366 / 7739
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39
|
(HPO:0002631)
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Ascending aortic aneurysm |
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9 / 7739
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40
|
(HPO:0003189)
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Long nose |
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20 / 7739
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41
|
(HPO:0008544)
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Abnormally folded helix |
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24 / 7739
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42
|
(HPO:0011220)
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Prominent forehead |
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137 / 7739
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43
|
(HPO:0011304)
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Broad thumb |
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39 / 7739
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44
|
(HPO:0000098)
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Tall stature |
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74 / 7739
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45
|
(OMIM)
|
Double row of teeth |
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1 / 7739
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46
|
(OMIM)
|
Borderline to large testes |
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1 / 7739
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47
|
(HPO:0001238)
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Slender finger |
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23 / 7739
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48
|
(OMIM)
|
Mental retardation, mild to moderate |
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33 / 7739
|
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49
|
(OMIM)
|
Autistic-like behavior |
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1 / 7739
|
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50
|
(OMIM)
|
Poor impulse control |
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1 / 7739
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51
|
(HPO:0001419)
|
X-linked recessive inheritance |
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189 / 7739
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