|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
3
|
(HPO:0000244)
|
Brachyturricephaly |
|
|
|
|
9 / 7739
|
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
9
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0000625)
|
Cleft eyelid |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
15
|
(HPO:0002006)
|
Facial cleft |
|
|
|
|
25 / 7739
|
|
16
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
17
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0004478)
|
Ethmoidal encephalocele |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0007481)
|
Hyperpigmented nevi |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0007633)
|
Bilateral microphthalmos |
|
|
|
|
13 / 7739
|
|
21
|
(HPO:0009852)
|
Broad proximal phalanges of the hand |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Ocular cyst, inferior |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Nasal cleft |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Fish-like mouth |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
'Chubby' proximal phalanges |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Reduced number of eyelashes |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Abnormal eyebrows |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|