|
1
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
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56 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
4
|
(HPO:0000388)
|
Otitis media |
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0011231)
|
Prominent eyelashes |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
12
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
13
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
15
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
16
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
20
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
21
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
22
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
23
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
|
|
73 / 7739
|
|
24
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
26
|
(HPO:0001795)
|
Hyperconvex nail |
|
|
|
|
13 / 7739
|
|
27
|
(HPO:0001880)
|
Eosinophilia |
|
|
|
|
35 / 7739
|
|
28
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
29
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
30
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
31
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
32
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
33
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
34
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
35
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
36
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
37
|
(HPO:0004689)
|
Short fourth metatarsal |
|
|
|
|
9 / 7739
|
|
38
|
(HPO:0004704)
|
Short fifth metatarsal |
|
|
|
|
3 / 7739
|
|
39
|
(HPO:0005041)
|
Irregular capital femoral epiphysis |
|
|
|
|
5 / 7739
|
|
40
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
41
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
|
42
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
43
|
(HPO:0006580)
|
Portal fibrosis |
|
|
|
|
10 / 7739
|
|
44
|
(HPO:0006889)
|
Intellectual disability, borderline |
|
|
|
|
6 / 7739
|
|
45
|
(HPO:0008804)
|
Broad femoral head |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0010041)
|
Short 3rd metacarpal |
|
|
|
|
5 / 7739
|
|
47
|
(HPO:0010044)
|
Short 4th metacarpal |
|
|
|
|
14 / 7739
|
|
48
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
49
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
|
|
30 / 7739
|
|
50
|
(HPO:0011406)
|
Infancy onset short-trunk short stature |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Long, prominent eyelashes |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Noncompaction of the heart |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Mild portal fibrosis |
|
|
|
|
2 / 7739
|
|
54
|
(OMIM)
|
Small, irregular proximal femoral epiphyses |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Broad femoral heads and necks |
|
|
|
|
1 / 7739
|
|
56
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
57
|
(OMIM)
|
Partial cutaneous syndactyly |
|
|
|
|
2 / 7739
|
|
58
|
(OMIM)
|
Bilateral transverse palmar creases |
|
|
|
|
4 / 7739
|
|
59
|
(OMIM)
|
Small 3rd and 4th metacarpals |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Short 4th and 5th metatarsals |
|
|
|
|
1 / 7739
|
|
61
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
62
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
63
|
(OMIM)
|
Normal IgG, IgA, IgM, IgE levels |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Low specific antibody titers (e.g., tetanus, polio virus, mumps, rubella) |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Normal lymphocyte response to pokeweed mitogen and conconavalin A |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Normal T-cell numbers |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Absent mitogenic response to Staphylococcus aureus Cowan antigen (SAC) |
|
|
|
|
1 / 7739
|
|
68
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
69
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|