1
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
2
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
3
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
4
|
(HPO:0007754)
|
Macular dystrophy |
|
|
|
|
26 / 7739
|
5
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
6
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
7
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
9
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
10
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
11
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
12
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
13
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
14
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
15
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
16
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
17
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
18
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
19
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
20
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
21
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
22
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
23
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
24
|
(OMIM)
|
Normal sweating |
|
|
|
|
13 / 7739
|
25
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
26
|
(HPO:0008059)
|
Aplasia/Hypoplasia of the macula |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
28
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
29
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|