|
1
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
2
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
3
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
7
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
9
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
12
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
13
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
15
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
16
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
17
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
18
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
20
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
21
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
22
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
23
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
24
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
25
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
26
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
27
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
28
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
29
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
30
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
31
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
32
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
33
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
|
34
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
35
|
(OMIM)
|
Poor growth, postnatal |
|
|
|
|
8 / 7739
|
|
36
|
(OMIM)
|
Progeroid appearance |
|
|
|
|
3 / 7739
|
|
37
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
38
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
39
|
(OMIM)
|
Hypoplastic alae |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Dislocated joints |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Clenched fists |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Thin, translucent skin |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Prominent superficial blood vessels due to thin skin |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Reduced number of elastic fibers |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Thin or fragmented elastic fibers |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Degenerated elastic fibers |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
48
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
49
|
(MedDRA:10061991)
|
Grimacing |
|
|
|
|
4 / 7739
|
|
50
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|