|
1
|
(HPO:0002251)
|
Aganglionic megacolon |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0001829)
|
Foot polydactyly |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
6
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
7
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
8
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
9
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
10
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
11
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|