|
1
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0011069)
|
Increased number of teeth |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000540)
|
Hypermetropia |
Occasional [Orphanet]
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0011265)
|
Cleft earlobe |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000098)
|
Tall stature |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
12
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
16
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0009933)
|
Narrow naris |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
18
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
20
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
|
22
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
23
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
24
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
25
|
(HPO:0010609)
|
Skin tags |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0011266)
|
Microtia, first degree |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0011372)
|
Aplasia of the inner ear |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0011476)
|
Profound sensorineural hearing impairment |
|
|
|
|
7 / 7739
|
|
29
|
(OMIM)
|
Microtia, type I |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Deafness, congenital sensorineural, profound (in some patients) |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Michel aplasia (complete absence of inner ear structures) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Anteverted ears |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Skin tags on the upper part of the auricle |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Stenosis of the jugular foramen |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Pontocerebellar arachnoid cyst (reported in 2 patients) |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
37
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
38
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0040080)
|
Anteverted ears |
|
|
|
|
6 / 7739
|