|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
5
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
7
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
8
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
12
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
|
|
|
|
180 / 7739
|
|
13
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
14
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
15
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
16
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
|
17
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
18
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
19
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
20
|
(OMIM)
|
Defects in mitochondria respiratory activities, mainly complexes I, II, and IV |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Defects in lipoate-containing mitochondrial enzyme complexes |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Absent primitive reflexes |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hypoplasia of the medulla oblongata |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Cortical cytotoxic edema |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
26
|
(OMIM)
|
Increased serum and CSF lactate |
|
|
|
|
7 / 7739
|
|
27
|
(OMIM)
|
Increased serum and CSF glycine |
|
|
|
|
1 / 7739
|