|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0002665)
|
Lymphoma |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
10
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
11
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
12
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0001881)
|
Abnormality of leukocytes |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
15
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
16
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
17
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
18
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
19
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
20
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
21
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
22
|
(HPO:0001908)
|
Hypoplastic anemia |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
|
24
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
|
25
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
|
26
|
(HPO:0006156)
|
Ulnar deviation of thumb |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0007400)
|
Irregular hyperpigmentation |
|
|
|
|
72 / 7739
|
|
28
|
(HPO:0009183)
|
Joint contracture of the 5th finger |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0009463)
|
Ulnar deviation of the 3rd finger |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
31
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
32
|
(OMIM)
|
Ulnar deviation of 1st, 3rd fingers |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
No chromosome breakage |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
35
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|