1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
2
|
(HPO:0000054)
|
Micropenis |
rare [HPO:skoehler]
|
|
|
|
257 / 7739
|
3
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
4
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
5
|
(HPO:0000161)
|
Median cleft lip |
|
|
|
|
27 / 7739
|
6
|
(HPO:0000171)
|
Microglossia |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
7
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
8
|
(HPO:0000248)
|
Brachycephaly |
rare [HPO:skoehler]
|
|
|
|
222 / 7739
|
9
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
10
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
11
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
12
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
13
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
14
|
(HPO:0001177)
|
Preaxial hand polydactyly |
|
|
|
|
59 / 7739
|
15
|
(HPO:0001302)
|
Pachygyria |
rare [HPO:probinson]
|
|
|
|
60 / 7739
|
16
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
rare [HPO:probinson]
|
|
|
|
57 / 7739
|
17
|
(HPO:0001395)
|
Hepatic fibrosis |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
18
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
19
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
20
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
|
|
63 / 7739
|
21
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
22
|
(HPO:0002566)
|
Intestinal malrotation |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
23
|
(HPO:0005349)
|
Hypoplasia of the epiglottis |
|
|
|
|
7 / 7739
|
24
|
(HPO:0005766)
|
Disproportionate shortening of the tibia |
|
|
|
|
2 / 7739
|
25
|
(HPO:0005817)
|
Postaxial polysyndactyly of foot |
|
|
|
|
1 / 7739
|
26
|
(HPO:0005873)
|
Polysyndactyly of hallux |
|
|
|
|
2 / 7739
|
27
|
(HPO:0006644)
|
Thoracic dysplasia |
|
|
|
|
12 / 7739
|
28
|
(HPO:0006956)
|
Dilation of lateral ventricles |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
29
|
(HPO:0010984)
|
Digenic inheritance |
|
|
|
|
4 / 7739
|
30
|
(HPO:0011802)
|
Hamartoma of tongue |
|
|
|
|
4 / 7739
|
31
|
(HPO:0100732)
|
Pancreatic fibrosis |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|