|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000072)
|
Hydroureter |
|
|
|
|
146 / 7739
|
|
3
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
5
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
6
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
9
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
11
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
12
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
13
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
14
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
15
|
(HPO:0000826)
|
Precocious puberty |
|
|
|
|
42 / 7739
|
|
16
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
|
17
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
18
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
19
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
20
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
21
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
22
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
23
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
24
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
25
|
(HPO:0001669)
|
Transposition of the great arteries |
|
|
|
|
36 / 7739
|
|
26
|
(HPO:0001748)
|
Polysplenia |
|
|
|
|
14 / 7739
|
|
27
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
28
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
29
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
30
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
31
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
32
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
33
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
34
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
35
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
36
|
(HPO:0006349)
|
Agenesis of permanent teeth |
|
|
|
|
13 / 7739
|
|
37
|
(HPO:0006397)
|
Lateral displacement of patellae |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
39
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
40
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
41
|
(OMIM)
|
Lateral displacement of medial canthi |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Delayed loss of deciduous teeth |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Short muscular neck |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
45
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
|
46
|
(OMIM)
|
Absent coccyx |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Decreased hip-joint mobility |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Flared ilia |
|
|
|
|
1 / 7739
|
|
49
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
50
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
51
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
52
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
53
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
54
|
(OMIM)
|
Variable delay (IQ range 52-104) |
|
|
|
|
1 / 7739
|