1
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
2
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
3
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
17564974
|
IBIS
|
79 / 7739
|
4
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
17564974
|
IBIS
|
316 / 7739
|
5
|
(HPO:0001631)
|
Atria septal defect |
|
|
17564974
|
IBIS
|
274 / 7739
|
6
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
17564974
|
IBIS
|
161 / 7739
|
7
|
(HPO:0002084)
|
Encephalocele |
|
|
|
|
70 / 7739
|
8
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
17564974
|
IBIS
|
25 / 7739
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
10
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
20690115
|
IBIS
|
349 / 7739
|
11
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
|
|
278 / 7739
|
12
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
13
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
14
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
16
|
(HPO:0002323)
|
Anencephaly |
rare [HPO:skoehler]
|
|
|
|
28 / 7739
|
17
|
(HPO:0002419)
|
Molar tooth sign on MRI |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
18
|
(HPO:0006487)
|
Bowing of the long bones |
rare [HPO:skoehler]
|
|
|
|
95 / 7739
|
19
|
(HPO:0003811)
|
Neonatal death |
|
|
20690115
|
IBIS
|
44 / 7739
|
20
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
20690115
|
IBIS
|
20 / 7739
|
21
|
(HPO:0006888)
|
Meningoencephalocele |
|
|
20690115
|
IBIS
|
3 / 7739
|
22
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
20690115
|
IBIS
|
16 / 7739
|
23
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
20690115
|
IBIS
|
85 / 7739
|
24
|
(HPO:0001627)
|
Abnormal heart morphology |
|
|
20690115
|
IBIS
|
19 / 7739
|
25
|
(HPO:0000812)
|
Abnormal internal genitalia |
|
|
20690115
|
IBIS
|
5 / 7739
|
26
|
(HPO:0000811)
|
Abnormal external genitalia |
|
|
20690115
|
IBIS
|
6 / 7739
|
27
|
(HPO:0001696)
|
Situs inversus totalis |
|
|
20690115
|
IBIS
|
44 / 7739
|