|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0001520)
|
Large for gestational age |
rare [HPO:skoehler]
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
8
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
9
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
11
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
12
|
(HPO:0002126)
|
Polymicrogyria |
rare [HPO:skoehler]
|
|
|
|
64 / 7739
|
|
13
|
(HPO:0002919)
|
Ketonuria |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
14
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
15
|
(HPO:0003355)
|
Aminoaciduria |
rare [HPO:skoehler]
|
|
|
|
65 / 7739
|
|
16
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
17
|
(HPO:0005528)
|
Bone marrow hypocellularity |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
18
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
19
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
20
|
(HPO:0012448)
|
Delayed myelination |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
21
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
|
22
|
(OMIM)
|
Poor visual fixation |
|
|
|
|
4 / 7739
|
|
23
|
(OMIM)
|
Renal tubular insufficiency (1 patient) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Syndactyly, 2/3 |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
26
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
29
|
(OMIM)
|
Skeletal muscle biopsy shows impaired respiratory oxidation |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Decreased expression of the VDAC1 protein |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Normal mitochondrial morphology (1 patient) |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10051403)
|
Mitochondrial DNA deletion |
|
|
|
|
6 / 7739
|
|
33
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
34
|
(OMIM)
|
Dilated lateral ventricles (1 patient) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Cortical dysplasia, focal (1 patient) |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
37
|
(OMIM)
|
Electrolyturia (1 patient) |
|
|
|
|
1 / 7739
|
|
38
|
(MedDRA:10062688)
|
Transaminases abnormal |
|
|
|
|
1 / 7739
|