|
1
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
13
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
14
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
15
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0007687)
|
Unilateral ptosis |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0007946)
|
Unilateral narrow palpebral fissure |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0009908)
|
Anterior creases of earlobe |
|
|
|
|
10 / 7739
|
|
19
|
(OMIM)
|
Decreased orbital diameter, unilateral |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Thin zygomatic arch, unilateral |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased IQ |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
23
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|