|
1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000161)
|
Median cleft lip |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
4
|
(HPO:0010760)
|
Absent toe |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0001199)
|
Triphalangeal thumb |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
11
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
12
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
13
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
14
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
15
|
(HPO:0001566)
|
Widely-spaced maxillary central incisors |
|
|
|
|
15 / 7739
|
|
16
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
17
|
(HPO:0100678)
|
Premature skin wrinkling |
|
|
|
|
25 / 7739
|
|
18
|
(OMIM)
|
Ectrodactyly of feet |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Borderline microcephaly |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
De novo translocation 46,XX,t(6,13)(q21,q12) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Premature skin aging |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
23
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
24
|
(HPO:0001839)
|
Split foot |
|
|
|
|
28 / 7739
|
|
25
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|