1
|
(HPO:0000025)
|
Functional abnormality of male internal genitalia |
Very frequent [Orphanet]
|
|
|
|
2 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
Occasional [Orphanet]
|
|
|
|
347 / 7739
|
3
|
(HPO:0008689)
|
Bilateral cryptorchidism |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
38 / 7739
|
4
|
(HPO:0000098)
|
Tall stature |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
5
|
(HPO:0000144)
|
Decreased fertility |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
Occasional [Orphanet]
|
|
|
|
349 / 7739
|
7
|
(HPO:0000179)
|
Thick lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
8
|
(HPO:0000275)
|
Narrow face |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
76 / 7739
|
9
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
10
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
11
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
13
|
(HPO:0000324)
|
Facial asymmetry |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
14
|
(HPO:0000388)
|
Otitis media |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
15
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
16
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
17
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
18
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
19
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
20
|
(HPO:0000679)
|
Taurodontia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
21
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
22
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
23
|
(HPO:0000689)
|
Dental malocclusion |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
24
|
(HPO:0010807)
|
Open bite |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
6 / 7739
|
25
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
26
|
(HPO:0000733)
|
Stereotypy |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
27
|
(HPO:0000771)
|
Gynecomastia |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
28
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
29
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
30
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
859 / 7739
|
31
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
32
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
33
|
(HPO:0001388)
|
Joint laxity |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
117 / 7739
|
34
|
(HPO:0005692)
|
Joint hyperflexibility |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
20 / 7739
|
35
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
36
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
37
|
(HPO:0001883)
|
Talipes |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
38
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
39
|
(HPO:0002099)
|
Asthma |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
40
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
41
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
42
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
43
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
44
|
(HPO:0011947)
|
Respiratory tract infection |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
28 / 7739
|
45
|
(HPO:0001251)
|
Ataxia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
413 / 7739
|
46
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
327 / 7739
|
47
|
(HPO:0002311)
|
Incoordination |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
48
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
49
|
(HPO:0002648)
|
Abnormality of calvarial morphology |
Frequent [Orphanet]
|
|
|
|
2 / 7739
|
50
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
51
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
52
|
(HPO:0005526)
|
Lymphoid leukemia |
Occasional [Orphanet]
occasional [HPO]
|
|
|
|
4 / 7739
|
53
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
54
|
(HPO:0005037)
|
Proximal radio-ulnar synostosis |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
6 / 7739
|
55
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
56
|
(HPO:0005021)
|
Bilateral elbow dislocations |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
24 / 7739
|
57
|
(HPO:0003043)
|
Abnormality of the shoulder |
Frequent [Orphanet]
|
|
|
|
2 / 7739
|
58
|
(HPO:0003272)
|
Abnormality of the hip bone |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
59
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
60
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
14 / 7739
|
61
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
62
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
63
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
64
|
(HPO:0008736)
|
Hypoplasia of penis |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
65
|
(HPO:0008872)
|
Feeding difficulties in infancy |
Frequent [Orphanet]
|
|
|
|
153 / 7739
|
66
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
67
|
(HPO:0100033)
|
Tics |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
68
|
(HPO:0002020)
|
Gastroesophageal reflux |
Occasional [Orphanet]
|
|
|
|
101 / 7739
|
69
|
(HPO:0002036)
|
Hiatus hernia |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
70
|
(HPO:0002578)
|
Gastroparesis |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
71
|
(HPO:0100633)
|
Esophagitis |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
72
|
(HPO:0010313)
|
Breast hypertrophy |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
73
|
(HPO:0008734)
|
Decreased testicular size |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
74
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
75
|
(HPO:0000176)
|
Submucous cleft hard palate |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
76
|
(HPO:0000185)
|
Cleft soft palate |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
77
|
(HPO:0000193)
|
Bifid uvula |
Occasional [Orphanet]
|
|
|
|
66 / 7739
|
78
|
(HPO:0011819)
|
Submucous cleft soft palate |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
79
|
(HPO:0000716)
|
Depression |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
80
|
(HPO:0000737)
|
Irritability |
Frequent [Orphanet]
|
|
|
|
93 / 7739
|
81
|
(HPO:0000739)
|
Anxiety |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
82
|
(HPO:0000741)
|
Apathy |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
83
|
(HPO:0000023)
|
Inguinal hernia |
Occasional [Orphanet]
|
|
|
|
181 / 7739
|
84
|
(HPO:0100541)
|
Femoral hernia |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
85
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
86
|
(HPO:0002321)
|
Vertigo |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
87
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
88
|
(HPO:0000709)
|
Psychosis |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
89
|
(HPO:0007302)
|
Bipolar affective disorder |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
90
|
(HPO:0100753)
|
Schizophrenia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
91
|
(HPO:0002121)
|
Absence seizures |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
92
|
(HPO:0002133)
|
Status epilepticus |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
93
|
(HPO:0011097)
|
Epileptic spasms |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
94
|
(HPO:0011147)
|
Typical absence seizures |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
95
|
(Orphanet:3740)
|
Enlargment of jaw/large jaw |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
96
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
97
|
(HPO:0002300)
|
Mutism |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
98
|
(HPO:0002357)
|
Dysphasia |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
99
|
(HPO:0002381)
|
Aphasia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
100
|
(HPO:0010529)
|
Echolalia |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
101
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
102
|
(HPO:0200021)
|
Down-sloping shoulders |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
103
|
(HPO:0000215)
|
Thick upper lip vermilion |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
104
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
105
|
(HPO:0001840)
|
Metatarsus adductus |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
106
|
(HPO:0004696)
|
Talipes cavus equinovarus |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
107
|
(HPO:0000027)
|
Azoospermia |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
108
|
(HPO:0000798)
|
Oligospermia |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
109
|
(HPO:0001548)
|
Overgrowth |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
110
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
111
|
(HPO:0005469)
|
Flat occiput |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
112
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
113
|
(HPO:0002673)
|
Coxa valga |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
114
|
(HPO:0002812)
|
Coxa vara |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
115
|
(HPO:0002827)
|
Hip dislocation |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
116
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
117
|
(HPO:0010665)
|
Bilateral coxa valga |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
118
|
(HPO:0012646)
|
Retractile testis |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
119
|
(HPO:0001260)
|
Dysarthria |
Occasional [Orphanet]
|
|
|
|
329 / 7739
|
120
|
(HPO:0001618)
|
Dysphonia |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
121
|
(HPO:0000135)
|
Hypogonadism |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
122
|
(HPO:0000823)
|
Delayed puberty |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
123
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
124
|
(HPO:0010535)
|
Sleep apnea |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
125
|
(HPO:0010536)
|
Central sleep apnea |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
126
|
(HPO:0005323)
|
Hemifacial hypertrophy |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
127
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
128
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
129
|
(HPO:0002033)
|
Poor suck |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
130
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [Orphanet]
|
|
|
|
1089 / 7739
|
131
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [Orphanet]
|
|
|
|
853 / 7739
|
132
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
133
|
(HPO:0001328)
|
Specific learning disability |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|