|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0000202)
|
Oral cleft |
rare [HPO:skoehler]
|
|
|
|
120 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0000657)
|
Oculomotor apraxia |
rare [HPO:skoehler]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0000662)
|
Nyctalopia |
rare [HPO:skoehler]
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
9
|
(HPO:0000833)
|
Glucose intolerance |
rare [HPO:skoehler]
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
11
|
(HPO:0001162)
|
Postaxial hand polydactyly |
rare [HPO:skoehler]
|
|
|
|
119 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
rare [HPO:skoehler]
|
|
|
|
57 / 7739
|
|
14
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
15
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
16
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
17
|
(HPO:0001513)
|
Obesity |
rare [HPO:skoehler]
|
|
|
|
172 / 7739
|
|
18
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
20
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
21
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
22
|
(HPO:0002857)
|
Genu valgum |
rare [HPO:skoehler]
|
|
|
|
144 / 7739
|
|
23
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
24
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
25
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
26
|
(HPO:0006644)
|
Thoracic dysplasia |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
28
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|