|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
4
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0005781)
|
Contractures of the large joints |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
12
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
13
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
14
|
(OMIM)
|
Motor developmental delay, severe |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
No speech |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|