|
1
|
(HPO:0002208)
|
Coarse hair |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
2
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
5
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
6
|
(HPO:0002162)
|
Low posterior hairline |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
7
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
8
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
9
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
10
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0006070)
|
Metacarpophalangeal joint contracture |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0009626)
|
Contractures of the interphalangeal joint of the thumb |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Nonprogressive deformities of hands |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Metacarpophalangeal flexion contractures |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10057689)
|
Acquired claw toe |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
22
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|