|
1
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0002263)
|
Exaggerated cupid's bow |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
4
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0010804)
|
Tented upper lip vermilion |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
13
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
14
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
15
|
(HPO:0010109)
|
Short hallux |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0010055)
|
Broad hallux |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
17
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
18
|
(HPO:0011305)
|
Partial absence of toe |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0100759)
|
Clubbing of fingers |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
22
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
23
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
24
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
26
|
(HPO:0001597)
|
Abnormality of the nail |
|
|
|
|
115 / 7739
|
|
27
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
28
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
29
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
30
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
31
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
32
|
(HPO:0006026)
|
Rounded epiphyses |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0009836)
|
Broad distal phalanx of finger |
|
|
|
|
8 / 7739
|
|
34
|
(HPO:0010041)
|
Short 3rd metacarpal |
|
|
|
|
5 / 7739
|
|
35
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
|
36
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
37
|
(OMIM)
|
Prominent columella |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
39
|
(HPO:0001500)
|
Broad finger |
|
|
|
|
9 / 7739
|
|
40
|
(HPO:0001837)
|
Broad toe |
|
|
|
|
13 / 7739
|
|
41
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
|
42
|
(OMIM)
|
Small toenails |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
44
|
(HPO:0001800)
|
Hypoplastic toenails |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
46
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
47
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|