|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
3
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
4
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
6
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
7
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
8
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
9
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
11
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
14
|
(HPO:0008940)
|
Generalized lymphadenopathy |
|
|
|
|
14 / 7739
|
|
15
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0005200)
|
Retroperitoneal fibrosis |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
19
|
(HPO:0100534)
|
Episcleritis |
|
|
|
|
9 / 7739
|
|
20
|
(OMIM)
|
Histiocytic deposits in eyelids |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Eyelid infiltrates |
|
|
|
|
4 / 7739
|
|
22
|
(OMIM)
|
Orbital mass due to histiocytosis |
|
|
|
|
4 / 7739
|
|
23
|
(OMIM)
|
Nasal mass due to histiocytosis |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Retropharyngeal lymphadenopathy |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Septal thickening (rare) |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Bicommissural aortic valve |
|
|
|
|
5 / 7739
|
|
27
|
(OMIM)
|
Inguinal lymphadenopathy, bilateral, extending across suprapubic area |
|
|
|
|
4 / 7739
|
|
28
|
(HPO:0100651)
|
Type I diabetes mellitus |
|
|
|
|
44 / 7739
|
|
29
|
(OMIM)
|
Exocrine pancreatic deficiency |
|
|
|
|
6 / 7739
|
|
30
|
(OMIM)
|
Pancreatomegaly (rare) |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Pancreatic hypoplasia, mild (rare) |
|
|
|
|
4 / 7739
|
|
32
|
(OMIM)
|
Intrauterine fractures of long bones and clavicles |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Contractures of fingers |
|
|
|
|
4 / 7739
|
|
34
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
35
|
(OMIM)
|
Contractures of toes |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
37
|
(OMIM)
|
Nonclonal myeloproliferation |
|
|
|
|
4 / 7739
|
|
38
|
(OMIM)
|
Hyperglobulinemia, polyclonal (in some patients) |
|
|
|
|
4 / 7739
|
|
39
|
(OMIM)
|
Elevated inflammatory markers |
|
|
|
|
4 / 7739
|