|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0001182)
|
Tapered finger |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
6
|
(HPO:0001597)
|
Abnormality of the nail |
rare [HPO:skoehler]
|
|
|
|
115 / 7739
|
|
7
|
(HPO:0001839)
|
Split foot |
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0003510)
|
Severe short stature |
rare [HPO:skoehler]
|
|
|
|
90 / 7739
|
|
10
|
(OMIM)
|
Mild scoliosis |
|
|
|
|
7 / 7739
|
|
11
|
(OMIM)
|
Asymmetric short and severely deformed legs (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Normal lower limbs (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
|
14
|
(OMIM)
|
Dorsalization of palms (in some patients) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Restriction of flexion at all metacarpophalangeal and interphalangeal joints (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Asymmetrical severely deformed feet (in some patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cylindrical nails (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|