1
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
2
|
(HPO:0000592)
|
Blue sclerae |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
3
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
4
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
5
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
6
|
(HPO:0000699)
|
Diastema |
|
|
|
|
10 / 7739
|
7
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
8
|
(HPO:0001234)
|
Hitchhiker thumb |
|
|
|
|
5 / 7739
|
9
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
10
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
11
|
(HPO:0002974)
|
Radioulnar synostosis |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
12
|
(HPO:0005037)
|
Proximal radio-ulnar synostosis |
|
|
|
|
6 / 7739
|
13
|
(HPO:0008368)
|
Tarsal synostosis |
|
|
|
|
21 / 7739
|
14
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
15
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
16
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
17
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
18
|
(HPO:0011087)
|
Talon cusp |
|
|
|
|
2 / 7739
|
19
|
(OMIM)
|
Wide-eye appearance |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
Macrophthalmia |
|
|
|
|
2 / 7739
|
21
|
(OMIM)
|
Tilted optic discs (in some patients) |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Midline diastema |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Narrow lower alveolar ridge |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Lobulated anterior palatine rugae (rare) |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Soft tissue syndactyly |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
Short abducted thumbs |
|
|
|
|
3 / 7739
|
27
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
28
|
(OMIM)
|
Functional symphalangism |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Hyperphalangism |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Preaxial brachydactyly |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Phalangeal duplication |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Lateral deviation of the halluces |
|
|
|
|
1 / 7739
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
34
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|