|
1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
|
7
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
8
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
9
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
12
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
13
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
14
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
15
|
(HPO:0001878)
|
Hemolytic anemia |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
|
19
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
20
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
21
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
22
|
(HPO:0004447)
|
Poikilocytosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
23
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
24
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
25
|
(HPO:0009796)
|
Branchial cyst |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
26
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
27
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
28
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
29
|
(HPO:0040075)
|
Hypopituitarism |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
30
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
31
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
32
|
(HPO:0008669)
|
Abnormal spermatogenesis |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
33
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
34
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|