|
1
|
(HPO:0000485)
|
Megalocornea |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
2
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0002488)
|
Acute leukemia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
8
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
9
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
10
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
11
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
12
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
13
|
(HPO:0002664)
|
Neoplasm |
|
|
|
|
111 / 7739
|
|
14
|
(OMIM)
|
Laterally overlapping upper eyelids |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Large cornea |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Lymphoblastic leukemia with mediastinal mass |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Possible DNA polymerase alpha defect |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Abnormal auricles |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
20
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
21
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|