|
1
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
rare [HPO:skoehler]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000293)
|
Full cheeks |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000319)
|
Smooth philtrum |
rare [HPO:skoehler]
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0000411)
|
Protruding ear |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
6
|
(HPO:0009904)
|
Prominent ear helix |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
8
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
9
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
10
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
11
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
rare [HPO:skoehler]
|
|
|
|
366 / 7739
|
|
15
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0004442)
|
Sagittal craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
18
|
(HPO:0005528)
|
Bone marrow hypocellularity |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0006532)
|
Recurrent pneumonia |
rare [HPO:skoehler]
|
|
|
|
48 / 7739
|
|
20
|
(HPO:0009836)
|
Broad distal phalanx of finger |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
22
|
(HPO:0010174)
|
Broad phalanx of the toes |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
|
24
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
|
|
53 / 7739
|
|
25
|
(OMIM)
|
Retinitis pigmentosa with preserved central vision |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Nyctalopia, congenital (in some patients) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Atypical cusps on maxillary first molars, mandibular first premolars, and canines |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Bony protrusion of hard palate (in some patients) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Taurodontism of molars (in some patients) |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Recurrent asthma (in some patients) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Reduced lung capacity |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Short, narrow thorax |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Short, thick ribs |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Palpable liver |
|
|
|
|
1 / 7739
|
|
35
|
(MedDRA:10057471)
|
Spleen palpable |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Nephronophthisis-like nephropathy |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Hip dysplasia, bilateral |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Short and broad distal phalanges |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Short second and fifth phalanges |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
41
|
(OMIM)
|
Short, broad phalanges |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Small second through fifth toes (in some patients) |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
44
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
45
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
46
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
47
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
48
|
(HPO:0001805)
|
Thick nail |
|
|
|
|
96 / 7739
|
|
49
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
51
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|