|
1
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
|
15138885
|
IBIS
|
116 / 7739
|
|
2
|
(HPO:0000707)
|
Abnormality of the nervous system |
Very frequent [IBIS]
|
|
15138885
|
IBIS
|
61 / 7739
|
|
3
|
(HPO:0002928)
|
Decreased activity of the pyruvate dehydrogenase complex |
Very frequent [IBIS]
|
|
15138885
|
IBIS
|
10 / 7739
|
|
4
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
15138885
|
IBIS
|
51 / 7739
|
|
5
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
15138885
|
IBIS
|
81 / 7739
|
|
6
|
(HPO:0002151)
|
Increased serum lactate |
|
|
15138885
|
IBIS
|
92 / 7739
|
|
7
|
(HPO:0001987)
|
Hyperammonemia |
|
|
15138885
|
IBIS
|
50 / 7739
|
|
8
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
15138885
|
IBIS
|
142 / 7739
|
|
9
|
(HPO:0001265)
|
Hyporeflexia |
|
|
15138885
|
IBIS
|
208 / 7739
|
|
10
|
(HPO:0001612)
|
Weak cry |
|
|
15138885
|
IBIS
|
17 / 7739
|
|
11
|
(HPO:0005943)
|
Respiratory arrest |
|
|
15138885
|
IBIS
|
5 / 7739
|
|
12
|
(OMIM)
|
Respiratory stridor in infancy |
|
|
15138885
|
IBIS
|
2 / 7739
|
|
13
|
(HPO:0001522)
|
Death in infancy |
|
|
15138885
|
IBIS
|
275 / 7739
|