|
1
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
7
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
|
9
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
10
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
11
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
12
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
13
|
(HPO:0000695)
|
Natal tooth |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
15
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
16
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
17
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
18
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
19
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
20
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0010751)
|
Chin dimple |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
22
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
23
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
24
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
25
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
26
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
27
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
28
|
(HPO:0000349)
|
Widow's peak |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
29
|
(HPO:0000049)
|
Shawl scrotum |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
30
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
31
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
32
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
33
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
34
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
35
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
36
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
37
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
38
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
39
|
(HPO:0011039)
|
Abnormality of the helix |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
40
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
41
|
(OMIM)
|
Mild antimongoloid slant |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Broad and depressed nasal bridge |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Slightly small, broad hands |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Interdigital webbing, mild |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Heavy and broad eyebrows |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
47
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
48
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
49
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|