1
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
3
|
(HPO:0005487)
|
Prominent metopic ridge |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
4
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
6
|
(HPO:0000275)
|
Narrow face |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
7
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
8
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
10
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
11
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
12
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
13
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
14
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
16
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
17
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
18
|
(HPO:0000263)
|
Oxycephaly |
|
|
|
|
10 / 7739
|
19
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
20
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
21
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
22
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
23
|
(OMIM)
|
Tower skull |
|
|
|
|
1 / 7739
|
24
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
25
|
(HPO:0000159)
|
Abnormality of the lip |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
26
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|