1
|
(HPO:0000130)
|
Abnormality of the uterus |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0003298)
|
Spina bifida occulta |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
3
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
5
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
6
|
(HPO:0000444)
|
Convex nasal ridge |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
8
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
9
|
(HPO:0010285)
|
Oral synechia |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
10
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
11
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
12
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
13
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
14
|
(HPO:0006482)
|
Abnormality of dental morphology |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
15
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
16
|
(HPO:0000632)
|
Lacrimation abnormality |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
17
|
(HPO:0000148)
|
Vaginal atresia |
|
|
|
|
16 / 7739
|
18
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
19
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
20
|
(OMIM)
|
Abnormal middle ear ossicles |
|
|
|
|
1 / 7739
|
21
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
22
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
23
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
24
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|