|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
4
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
5
|
(HPO:0000220)
|
Velopharyngeal insufficiency |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
8
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
12
|
(HPO:0000627)
|
Posterior embryotoxon |
|
|
|
|
15 / 7739
|
|
13
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
14
|
(HPO:0000720)
|
Mood swings |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0000818)
|
Abnormality of the endocrine system |
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
20
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
21
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
22
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
23
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
24
|
(HPO:0002627)
|
Right aortic arch with mirror image branching |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
26
|
(HPO:0002901)
|
Hypocalcemia |
|
|
|
|
56 / 7739
|
|
27
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
28
|
(HPO:0005435)
|
Impaired T cell function |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
29
|
(HPO:0006549)
|
Unilateral primary pulmonary dysgenesis |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0011999)
|
Paranoia |
|
|
|
|
6 / 7739
|
|
31
|
(OMIM)
|
Long |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10035009)
|
Pierre Robin syndrome |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Minor auricular anomalies |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Small optic discs |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Tortuous retinal vessels |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Square nasal root |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Decreased nasopharyngeal lymphoid tissue |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Prominent tubular nose |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Small open mouth |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Pharyngeal hypotonia |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Congenital abnormality in 85% |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0012020)
|
Right aortic arch |
|
|
|
|
9 / 7739
|
|
43
|
(OMIM)
|
Aberrant left subclavian |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Internal carotid artery abnormalities |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Slender hands and digits |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Blunt or inappropriate affect |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Psychotic illness |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
49
|
(OMIM)
|
Neonatal hypocalcemia, rare |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Frequent infections T-lymphocyte dysfunction, rare |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Monosomy for 22q11 |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
53
|
(HPO:0012841)
|
Retinal vascular tortuosity |
|
|
|
|
3 / 7739
|