|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
9
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
10
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0004743)
|
Chronic tubulointerstitial nephritis |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0100866)
|
Short iliac bones |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Attenuated arteries |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0001103)
|
Abnormality of the macula |
|
|
|
|
7 / 7739
|
|
18
|
(OMIM)
|
Wide bridge |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Yellow discoloration |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Restrictive reduced lung volume |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Abnormal ribs, with horizontal orientation dorsally and diagonal orientation anteriorly |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
23
|
(OMIM)
|
Wide intrahepatic bile ducts |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Diffuse sclerotic glomerulonephritis |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Spur-like protrusions at acetabular roof |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Rhizomelic shortening |
|
|
|
|
12 / 7739
|
|
27
|
(OMIM)
|
Short and broad diaphyses |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Small dysplastic epiphysis of distal radius |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Small dysplastic epiphysis of distal tibia |
|
|
|
|
1 / 7739
|
|
30
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
31
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
32
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
33
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
34
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
35
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
37
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
38
|
(HPO:0006644)
|
Thoracic dysplasia |
|
|
|
|
12 / 7739
|
|
39
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|