|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
3
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
4
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
5
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
|
7
|
(OMIM)
|
Agenesis of the cingulate gyrus |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Beta-hydroxyisobutyryl-CoA deacylase deficiency |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Methacrylicaciduria |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Urinary excretion of cysteine and cysteamine conjugates of methacrylic acid |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Accumulation of methacrylyl-CoA |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
14
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
15
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
19
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
21
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
22
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|