|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
|
|
22 / 7739
|
|
5
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
8
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
12
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
13
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
14
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
15
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
16
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
17
|
(OMIM)
|
Narrow ears |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Abnormal helices, antihelices and lobules |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Small nares |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Grooved nasal tip |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Grooved columella |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Large wide feet |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Gap between the 1st and 2nd toes (sandal gap) |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0004470)
|
Atretic occipital cephalocele |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Dandy-Walker variant |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
28
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|