|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
5
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
6
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0001305)
|
Dandy-Walker malformation |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
12
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
14
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
15
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
16
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
17
|
(HPO:0001238)
|
Slender finger |
|
|
|
|
23 / 7739
|
|
18
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
19
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
20
|
(HPO:0006742)
|
Congenital neuroblastoma |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Thin fingers with absent knuckles |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Reduced interphalangeal creases |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hypoplastic dermal ridges |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Inability to make a complete fist |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
|
|
32 / 7739
|
|
26
|
(OMIM)
|
Single sternal ossification center |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Congenital severe joint contractures |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Limitation in ability to open mouth |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Multiple ventricular septal defects |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
32
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|