|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
4
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
5
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0005352)
|
Severe T-cell immunodeficiency |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
8
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
9
|
(HPO:0007587)
|
Numerous pigmented freckles |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
13
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
14
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
15
|
(HPO:0002592)
|
Gastric ulcer |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
16
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0000786)
|
Primary amenorrhea |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
20
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0000246)
|
Sinusitis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
23
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
24
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
25
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
|
26
|
(HPO:0001888)
|
Lymphopenia |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
27
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
28
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
29
|
(HPO:0000041)
|
Chordee |
|
|
|
|
11 / 7739
|
|
30
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
31
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
32
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
33
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
34
|
(HPO:0001054)
|
Numerous nevi |
|
|
|
|
8 / 7739
|
|
35
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
36
|
(HPO:0001367)
|
Abnormal joint morphology |
|
|
|
|
53 / 7739
|
|
37
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
38
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
39
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
40
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
|
41
|
(HPO:0002943)
|
Thoracic scoliosis |
|
|
|
|
12 / 7739
|
|
42
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
43
|
(HPO:0003193)
|
Allergic rhinitis |
|
|
|
|
6 / 7739
|
|
44
|
(HPO:0004791)
|
Esophageal ulceration |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0005101)
|
High-frequency hearing impairment |
|
|
|
|
16 / 7739
|
|
46
|
(HPO:0005320)
|
Lack of facial subcutaneous fat |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0005364)
|
Severe viral infections |
|
|
|
|
2 / 7739
|
|
48
|
(HPO:0005435)
|
Impaired T cell function |
|
|
|
|
9 / 7739
|
|
49
|
(HPO:0007879)
|
Allergic conjunctivitis |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
51
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
52
|
(OMIM)
|
Bird-like face |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Irregular dentition |
|
|
|
|
6 / 7739
|
|
54
|
(OMIM)
|
Reduced joint mobility |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
56
|
(OMIM)
|
Cognitive decline in adulthood |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Sleep disorder with severe insomnia (in adulthood) |
|
|
|
|
1 / 7739
|
|
58
|
(MedDRA:10036601)
|
Premature menopause |
|
|
|
|
3 / 7739
|
|
59
|
(OMIM)
|
Development of tumors in adulthood |
|
|
|
|
1 / 7739
|
|
60
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
61
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
62
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
63
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
64
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
65
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
66
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
67
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
68
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
69
|
(HPO:0040079)
|
Irregular dentition |
|
|
|
|
7 / 7739
|