|
1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
3
|
(HPO:0009896)
|
Abnormality of the antitragus |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
6
|
(HPO:0001161)
|
Hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
7
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
8
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
9
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0002612)
|
Congenital hepatic fibrosis |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
14
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
17
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
18
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
19
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
20
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
21
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
24
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
|
25
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
26
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
27
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
28
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
29
|
(OMIM)
|
No obesity |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0001139)
|
Choroideremia |
|
|
|
|
7 / 7739
|
|
31
|
(OMIM)
|
No polydactyly |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|