|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
11781686
|
IBIS
|
250 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
21998596
|
IBIS
|
832 / 7739
|
|
3
|
(HPO:0000341)
|
Narrow forehead |
|
|
21998596
|
IBIS
|
96 / 7739
|
|
4
|
(HPO:0000448)
|
Prominent nose |
|
|
21998596
|
IBIS
|
56 / 7739
|
|
5
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
11781686
|
IBIS
|
114 / 7739
|
|
6
|
(HPO:0001510)
|
Growth delay |
|
|
21998596
|
IBIS
|
295 / 7739
|
|
7
|
(HPO:0001620)
|
High pitched voice |
4/4 [HPO:probinson]
|
|
11781686
|
IBIS
|
32 / 7739
|
|
8
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
21998596
|
IBIS
|
288 / 7739
|
|
9
|
(HPO:0007429)
|
Few cafe-au-lait spots |
|
|
21998596
|
IBIS
|
7 / 7739
|
|
10
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
21998596
|
IBIS
|
10 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0000086)
|
Ectopic kidney |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
13
|
(HPO:0000171)
|
Microglossia |
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
15
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
16
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
17
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
18
|
(HPO:0030148)
|
Heart murmur |
|
|
|
|
29 / 7739
|