|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
3
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
4
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
7
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
|
8
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
9
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
10
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
12
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
13
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
14
|
(OMIM)
|
Facial weakness, mild |
|
|
|
|
6 / 7739
|
|
15
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
16
|
(OMIM)
|
Syndactyly, bilateral (2nd and 3rd toes) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Paradoxical sweating response (sweating induced by cold exposure, inability to sweat in hot weather) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Sensorimotor peripheral neuropathy, mild |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|