|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
14
|
(HPO:0002880)
|
Respiratory difficulties |
|
|
|
|
15 / 7739
|
|
15
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
19
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|