|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0001180)
|
Hand oligodactyly |
frequent [HPO]
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
4
|
(HPO:0004050)
|
Absent hand |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
5
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0004060)
|
Trident hand |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
9
|
(HPO:0000175)
|
Cleft palate |
frequent [HPO]
|
|
|
|
349 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
35% [HPO]
|
|
|
|
539 / 7739
|
|
11
|
(HPO:0000377)
|
Abnormality of the pinna |
35% [HPO]
|
|
|
|
111 / 7739
|
|
12
|
(HPO:0001159)
|
Syndactyly |
frequent [HPO]
|
|
|
|
140 / 7739
|
|
13
|
(HPO:0001171)
|
Split hand |
hallmark [HPO]
|
|
|
|
72 / 7739
|
|
14
|
(HPO:0001199)
|
Triphalangeal thumb |
|
|
|
|
56 / 7739
|
|
15
|
(HPO:0001249)
|
Intellectual disability |
33% [HPO]
|
|
|
|
1089 / 7739
|
|
16
|
(HPO:0001839)
|
Split foot |
hallmark [HPO]
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0001849)
|
Foot oligodactyly |
frequent [HPO]
|
|
|
|
9 / 7739
|
|
18
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
19
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
|
20
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
13% [HPO]
|
|
|
|
355 / 7739
|