|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
7
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
10
|
(HPO:0002101)
|
Abnormal lung lobation |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
11
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
12
|
(HPO:0000465)
|
Webbed neck |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
13
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
16
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
17
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0001660)
|
Truncus arteriosus |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0002324)
|
Hydranencephaly |
|
|
|
|
9 / 7739
|
|
22
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
23
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
24
|
(OMIM)
|
Short terminal phalanges of fingers |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Hypolobulation of lungs |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
27
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Frequent [Orphanet]
|
|
|
|
57 / 7739
|
|
28
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
29
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|