1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
3
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
4
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
5
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
8
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
9
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
10
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
12
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
13
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
14
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
15
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
16
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
17
|
(HPO:0000474)
|
Thickened nuchal skin fold |
|
|
|
|
10 / 7739
|
18
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
19
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
20
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
21
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
22
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
23
|
(HPO:0000680)
|
Delayed eruption of primary teeth |
|
|
|
|
10 / 7739
|
24
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
25
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
26
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
28
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
29
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
30
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
31
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
32
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
33
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
34
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
35
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
36
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
37
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
38
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
39
|
(HPO:0001660)
|
Truncus arteriosus |
|
|
|
|
21 / 7739
|
40
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
41
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
42
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
43
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
44
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
45
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
46
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
47
|
(HPO:0002562)
|
Low-set nipples |
|
|
|
|
2 / 7739
|
48
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
49
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
50
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
51
|
(HPO:0009765)
|
Low hanging columella |
|
|
|
|
9 / 7739
|
52
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
53
|
(OMIM)
|
Broad mandible |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Hooded eyelids |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Misaligned teeth |
|
|
|
|
2 / 7739
|
56
|
(OMIM)
|
13 pairs of ribs |
|
|
|
|
2 / 7739
|
57
|
(OMIM)
|
Tight anal sphincter |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Misplaced anus |
|
|
|
|
1 / 7739
|
59
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
60
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
61
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
62
|
(OMIM)
|
Patients have supernumerary chromosome - 47,XX(or XY), +der(22), +(11:22)(q23:q11) |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Carriers have balanced constitutional translocation - 46,XX(or XY), +(11:22)(q23:q11) |
|
|
|
|
1 / 7739
|
64
|
(HPO:0012802)
|
Broad jaw |
|
|
|
|
2 / 7739
|