|
1
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
5
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
6
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
7
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
10
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
12
|
(OMIM)
|
Breathing anomalies |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Kyphoscoliosis, severe |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Vermis aplasia |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|