|
1
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
2
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
5
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
6
|
(HPO:0009721)
|
Shagreen patch |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
8
|
(HPO:0000607)
|
Periorbital wrinkles |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
10
|
(HPO:0005620)
|
Hypermobility of interphalangeal joints |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
12
|
(HPO:0007425)
|
Hyperextensible skin of face |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0010709)
|
2-4 finger syndactyly |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0011930)
|
Hyperextensible skin of chest |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Partial duplication of eyebrows |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Excess forehead hair |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Congenital fibromata of lips |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Excessively stretchable skin of face and chest |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0045018)
|
Partial duplication of eyebrows |
|
|
|
|
1 / 7739
|