|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
3
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
4
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
7
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
8
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
9
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
10
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
|
|
32 / 7739
|
|
11
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0002506)
|
Diffuse cerebral atrophy |
|
|
|
|
9 / 7739
|
|
13
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
14
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
15
|
(HPO:0005871)
|
Metaphyseal chondrodysplasia |
|
|
|
|
10 / 7739
|
|
16
|
(OMIM)
|
Midface hypoplasia, mild |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Decreased bone mineralization |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Broad knees |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Broad wrists |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Normal psychomotor development until age 2 to 3 years |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
22
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
23
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|