|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
3
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000384)
|
Preauricular skin tag |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
8
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
9
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
12
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
14
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
15
|
(HPO:0002057)
|
Prominent glabella |
|
|
|
|
8 / 7739
|
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
17
|
(OMIM)
|
Low-set, cup-shaped ears |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
19
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
20
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
21
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|