|
1
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
2
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
3
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
6
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
11
|
(HPO:0001118)
|
Juvenile cataract |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0002235)
|
Pili canaliculi |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0008036)
|
Retinal pigmentary dystrophy |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
16
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
17
|
(HPO:0010241)
|
Short proximal phalanx of finger |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0011069)
|
Increased number of teeth |
|
|
|
|
39 / 7739
|
|
19
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
20
|
(OMIM)
|
Pili trianguli |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
23
|
(HPO:0030056)
|
Uncombable hair |
|
|
|
|
3 / 7739
|