|
1
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
11443545
|
IBIS
|
54 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
11443545
|
IBIS
|
257 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
11443545
|
IBIS
|
832 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
11443545
|
IBIS
|
426 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
|
|
11443545
|
IBIS
|
539 / 7739
|
|
6
|
(HPO:0000490)
|
Deeply set eye |
|
|
11443545
|
IBIS
|
131 / 7739
|
|
7
|
(HPO:0000518)
|
Cataract |
|
|
11443545
|
IBIS
|
454 / 7739
|
|
8
|
(HPO:0000568)
|
Microphthalmia |
|
|
11443545
|
IBIS
|
183 / 7739
|
|
9
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
11443545
|
IBIS
|
75 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
11443545
|
IBIS
|
853 / 7739
|
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
11443545
|
IBIS
|
358 / 7739
|
|
12
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
11443545
|
IBIS
|
85 / 7739
|
|
13
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
11443545
|
IBIS
|
131 / 7739
|
|
14
|
(HPO:0003683)
|
Large beaked nose |
|
|
11443545
|
IBIS
|
4 / 7739
|
|
15
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
11443545
|
IBIS
|
212 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|