|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
2
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
8
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
12
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
13
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
14
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
15
|
(HPO:0000611)
|
Choroid coloboma |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0000613)
|
Photophobia |
|
|
|
|
158 / 7739
|
|
17
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
18
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
19
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
20
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
21
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
22
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
23
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
24
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
25
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
26
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0002690)
|
Large sella turcica |
|
|
|
|
12 / 7739
|
|
28
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
29
|
(HPO:0002836)
|
Bladder exstrophy |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
31
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
32
|
(HPO:0003173)
|
Hypoplastic pubic bone |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
|
34
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
35
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
36
|
(HPO:0003717)
|
Minimal subcutaneous fat |
|
|
|
|
4 / 7739
|
|
37
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
38
|
(HPO:0005832)
|
Dysharmonic delayed bone age |
|
|
|
|
3 / 7739
|
|
39
|
(HPO:0005897)
|
Severe generalized osteoporosis |
|
|
|
|
4 / 7739
|
|
40
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
41
|
(HPO:0006470)
|
Thin long bone diaphyses |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0008826)
|
Dislocation of the femoral head |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0004097)
|
Deviation of finger |
|
|
|
|
13 / 7739
|
|
44
|
(HPO:0009465)
|
Ulnar deviation of finger |
|
|
|
|
48 / 7739
|
|
45
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
46
|
(HPO:0100857)
|
Flat sella turcica |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Steep, narrow forehead |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Small, pointed nose |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Enlarged, flat sella turcica |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
51
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|