|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000370)
|
Abnormality of the middle ear |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
12
|
(HPO:0000627)
|
Posterior embryotoxon |
|
|
|
|
15 / 7739
|
|
13
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0000647)
|
Sclerocornea |
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0000777)
|
Abnormality of the thymus |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
18
|
(HPO:0000860)
|
Parathyroid hypoplasia |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
20
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
23
|
(HPO:0001281)
|
Tetany |
|
|
|
|
20 / 7739
|
|
24
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
25
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
26
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
27
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
28
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
29
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
30
|
(HPO:0001660)
|
Truncus arteriosus |
|
|
|
|
21 / 7739
|
|
31
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
32
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
33
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
|
34
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
35
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
36
|
(HPO:0007302)
|
Bipolar affective disorder |
|
|
|
|
15 / 7739
|
|
37
|
(HPO:0008211)
|
Parathyroid agenesis |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0011611)
|
Interrupted aortic arch |
|
|
|
|
10 / 7739
|
|
39
|
(HPO:0100541)
|
Femoral hernia |
|
|
|
|
7 / 7739
|
|
40
|
(HPO:0100753)
|
Schizophrenia |
|
|
|
|
20 / 7739
|
|
41
|
(OMIM)
|
Abnormal folded pinna |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Hearing deficit |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Tortuous retinal vasculature |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Eyelid hooding |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
46
|
(OMIM)
|
Accommodative esotropia |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Complicated strabismus |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Blunted nose |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
50
|
(HPO:0012020)
|
Right aortic arch |
|
|
|
|
9 / 7739
|
|
51
|
(OMIM)
|
Severe acne (23% of adults) |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Mild to moderate learning difficulties |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
54
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
|
|
13 / 7739
|
|
55
|
(HPO:0005359)
|
Aplasia of the thymus |
|
|
|
|
6 / 7739
|
|
56
|
(OMIM)
|
Accessory thyroid tissue |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0008191)
|
Thyroid agenesis |
|
|
|
|
11 / 7739
|
|
58
|
(OMIM)
|
Immune defect due to a T cell deficit |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Neonatal hypocalcemia |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
T-cell deficit |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
85-90% DGS patients have deletion of 22q11.2 |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Other cytogenic abnormalities have been associated with DGS phenotype including monosomy 10p13, 11p13, and 4q21 |
|
|
|
|
1 / 7739
|