|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
8
|
(HPO:0000592)
|
Blue sclerae |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
13
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
14
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
17
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
18
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
20
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
21
|
(HPO:0000988)
|
Skin rash |
|
|
|
|
98 / 7739
|
|
22
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
23
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
24
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
25
|
(HPO:0001974)
|
Leukocytosis |
|
|
|
|
33 / 7739
|
|
26
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
27
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
28
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
29
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
30
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
|
31
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
|
|
129 / 7739
|
|
32
|
(HPO:0002751)
|
Kyphoscoliosis |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
33
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
34
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
35
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
36
|
(HPO:0004819)
|
Normocytic hypoplastic anemia |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0006268)
|
Fluctuating splenomegaly |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0006564)
|
Fluctuating hepatomegaly |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0012282)
|
Morbilliform rash |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Wide, irregular fontanels |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Central cataract |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Nuclear cataract (in some patients) Retinal dystrophy (in some patients) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Undetectable rod and cone responses on electroretinography |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Attenuation of retinal vessels |
|
|
|
|
5 / 7739
|
|
45
|
(OMIM)
|
Moderate atrophy of optic disc |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
47
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
48
|
(OMIM)
|
Elevated IgD |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Serum cholesterol low or normal |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Elevated leukotriene E(4) |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Decreased ubiquinone-10 |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Elevated urinary mevalonic acid |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
54
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
55
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
56
|
(HPO:0012072)
|
Aciduria |
|
|
|
|
1 / 7739
|