|
1
|
(HPO:0000027)
|
Azoospermia |
|
|
21596366
|
IBIS
|
28 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
21596366
|
IBIS
|
644 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
21596366
|
IBIS
|
262 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
21596366
|
IBIS
|
372 / 7739
|
|
6
|
(HPO:0000445)
|
Wide nose |
|
|
21596366
|
IBIS
|
190 / 7739
|
|
7
|
(HPO:0000490)
|
Deeply set eye |
|
|
21596366
|
IBIS
|
131 / 7739
|
|
8
|
(HPO:0000508)
|
Ptosis |
|
|
21596366
|
IBIS
|
459 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
21596366
|
IBIS
|
48 / 7739
|
|
11
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
21596366
|
IBIS
|
56 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
21596366
|
IBIS
|
853 / 7739
|
|
14
|
(HPO:0001342)
|
Cerebral hemorrhage |
|
|
21596366
|
IBIS
|
24 / 7739
|
|
15
|
(HPO:0001500)
|
Broad finger |
|
|
21596366
|
IBIS
|
9 / 7739
|
|
16
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
21596366
|
IBIS
|
141 / 7739
|
|
17
|
(HPO:0001711)
|
Abnormality of the left ventricle |
|
|
21596366
|
IBIS
|
22 / 7739
|
|
18
|
(HPO:0002216)
|
Premature graying of hair |
|
|
21596366
|
IBIS
|
43 / 7739
|
|
19
|
(HPO:0002401)
|
Stroke-like episodes |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
|
|
21596366
|
IBIS
|
1232 / 7739
|
|
21
|
(HPO:0005288)
|
Abnormality of the nares |
|
|
21596366
|
IBIS
|
3 / 7739
|
|
22
|
(HPO:0005922)
|
Abnormal hand morphology |
|
|
|
|
6 / 7739
|
|
23
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
24
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
25
|
(HPO:0011834)
|
Moyamoya phenomenon |
|
|
21596366
|
IBIS
|
4 / 7739
|
|
26
|
(HPO:0200055)
|
Small hand |
|
|
21596366
|
IBIS
|
71 / 7739
|
|
27
|
(OMIM)
|
Early-onset cataracts (1 family) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Flared nares |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Left ventricular enlargement |
|
|
|
|
9 / 7739
|
|
30
|
(MedDRA:10028047)
|
Moyamoya disease |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Cerebrovascular disease |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Broad, short fingers |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Acute neurologic deficits due to cerebrovascular disease |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
35
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
36
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
21596366
|
IBIS
|
169 / 7739
|
|
37
|
(HPO:0000822)
|
Hypertension |
|
|
21596366
|
IBIS
|
224 / 7739
|
|
38
|
(HPO:0005181)
|
Premature coronary artery disease |
|
|
21596366
|
IBIS
|
5 / 7739
|
|
39
|
(HPO:0007819)
|
Presenile cataracts |
|
|
21596366
|
IBIS
|
5 / 7739
|
|
40
|
(MedDRA:10008118)
|
Cerebral infarction |
|
|
21596366
|
IBIS
|
10 / 7739
|
|
41
|
(HPO:0100545)
|
Arterial stenosis |
|
|
21596366
|
IBIS
|
22 / 7739
|
|
42
|
(HPO:0009381)
|
Short finger |
|
|
21596366
|
IBIS
|
45 / 7739
|
|
43
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
21596366
|
IBIS
|
76 / 7739
|
|
44
|
(HPO:0012020)
|
Right aortic arch |
|
|
21596366
|
IBIS
|
9 / 7739
|
|
45
|
(HPO:0000823)
|
Delayed puberty |
|
|
21596366
|
IBIS
|
65 / 7739
|
|
46
|
(HPO:0011098)
|
Speech apraxia |
|
|
21596366
|
IBIS
|
9 / 7739
|
|
47
|
(HPO:0001920)
|
Renal artery stenosis |
|
|
21596366
|
IBIS
|
5 / 7739
|
|
48
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
21596366
|
IBIS
|
53 / 7739
|
|
49
|
(HPO:0000267)
|
Cranial asymmetry |
|
|
21596366
|
IBIS
|
6 / 7739
|
|
50
|
(HPO:0000574)
|
Thick eyebrow |
|
|
21596366
|
IBIS
|
96 / 7739
|