|
1
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001367)
|
Abnormal joint morphology |
|
|
|
|
53 / 7739
|
|
6
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
8
|
(HPO:0001863)
|
Toe clinodactyly |
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
10
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0003799)
|
Marked delay in bone age |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0004785)
|
Malrotation of colon |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0008633)
|
Absent gonadal tissue |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal female external genitalia. Absent gonadal tissue. Renal agenesis. |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Peculiar face. |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Dysplastic hips |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Partial clino-/syndactyly of toes. |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
21
|
(OMIM)
|
46,XY chromosomes |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|