1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
2
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
6
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
7
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
8
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
9
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0011073)
|
Abnormality of dental color |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
12
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
13
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
14
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
15
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
16
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
17
|
(HPO:0009623)
|
Proximal placement of thumb |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
18
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
19
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
20
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
21
|
(HPO:0000162)
|
Glossoptosis |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
22
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
23
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
24
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
25
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
26
|
(HPO:0001795)
|
Hyperconvex nail |
|
|
|
|
13 / 7739
|
27
|
(HPO:0005747)
|
Easily subluxated first metacarpophalangeal joints |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Finger-shaped thumbs |
|
|
|
|
1 / 7739
|
29
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
30
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|