|
1
|
(HPO:0010760)
|
Absent toe |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
4
|
(HPO:0009700)
|
Finger symphalangism |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
6
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
7
|
(HPO:0011305)
|
Partial absence of toe |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
10
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
11
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001449)
|
Duplication of metatarsal bones |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001800)
|
Hypoplastic toenails |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0001991)
|
Aplasia/Hypoplasia of toe |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0002751)
|
Kyphoscoliosis |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
17
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
18
|
(OMIM)
|
Partial distal aphalangia |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Duplication of metacarpal IV |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Normal great toes |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Hypoplastic nails of affected digits |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
23
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|