1
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
|
|
73 / 7739
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
4
|
(HPO:0000329)
|
Facial hemangioma |
|
|
17855048
|
IBIS
|
5 / 7739
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
6
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
7
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
|
|
17855048
|
IBIS
|
576 / 7739
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
10
|
(HPO:0000545)
|
Myopia |
|
|
17855048
|
IBIS
|
286 / 7739
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
17855048
|
IBIS
|
1089 / 7739
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
17855048
|
IBIS
|
853 / 7739
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
16
|
(HPO:0001513)
|
Obesity |
|
|
17855048
|
IBIS
|
172 / 7739
|
17
|
(HPO:0001748)
|
Polysplenia |
|
|
|
|
14 / 7739
|
18
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
19
|
(HPO:0002219)
|
Facial hypertrichosis |
|
|
|
|
8 / 7739
|
20
|
(HPO:0002360)
|
Sleep disturbance |
|
|
17855048
|
IBIS
|
113 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
|
|
17855048
|
IBIS
|
705 / 7739
|
22
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
23
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
17855048
|
IBIS
|
288 / 7739
|
24
|
(HPO:0004383)
|
Hypoplastic left heart |
|
|
|
|
29 / 7739
|
25
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
26
|
(HPO:0009553)
|
Abnormality of the hairline |
|
|
17855048
|
IBIS
|
30 / 7739
|
27
|
(HPO:0009765)
|
Low hanging columella |
|
|
|
|
9 / 7739
|
28
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
29
|
(HPO:0010815)
|
Nevus sebaceous |
|
|
17855048
|
IBIS
|
2 / 7739
|
30
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
31
|
(HPO:0001442)
|
Somatic mosaicism |
|
|
|
|
7 / 7739
|
32
|
(HPO:0001452)
|
Autosomal dominant contiguous gene syndrome |
|
|
|
|
4 / 7739
|
33
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|