|
1
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0002006)
|
Facial cleft |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
6
|
(HPO:0009932)
|
Single naris |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
8
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0100729)
|
Large face |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
13
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
14
|
(HPO:0009912)
|
Abnormality of the tragus |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
16
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
17
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
19
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
21
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
24
|
(HPO:0000050)
|
Hypoplastic male external genitalia |
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
26
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
27
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
28
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
29
|
(HPO:0000289)
|
Broad philtrum |
|
|
|
|
11 / 7739
|
|
30
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
31
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
32
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
33
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
34
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
35
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
36
|
(HPO:0002084)
|
Encephalocele |
|
|
|
|
70 / 7739
|
|
37
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
38
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
39
|
(HPO:0006315)
|
Single median maxillary incisor |
|
|
|
|
13 / 7739
|
|
40
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
41
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
42
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
|
43
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
44
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
45
|
(OMIM)
|
Midline nasal appendage |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Proboscis-like nares |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Asymmetric cranial vault |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
49
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
50
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
51
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
52
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
53
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
54
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|