|
1
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
|
|
13 / 7739
|
|
10
|
(HPO:0100678)
|
Premature skin wrinkling |
|
|
|
|
25 / 7739
|
|
11
|
(OMIM)
|
Progressive cerebral disease |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Motor impairment |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Leukodystrophy with multiple axonal, oligodendrocytic and Schwann cell spheroids containing granules like ceroid-lipofuscin bodies |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Skin hypercellularity |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Large hands and feet |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Thickened wrinkled skin |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Skin sclerosis |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Creased skin |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|