|
1
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
2
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
4
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
7
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
12
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
13
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
16
|
(HPO:0001733)
|
Pancreatitis |
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
18
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
19
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
20
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
21
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
22
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
23
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
24
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
25
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
26
|
(HPO:0002154)
|
Hyperglycinemia |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0002509)
|
Limb hypertonia |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
29
|
(HPO:0003108)
|
Hyperglycinuria |
|
|
|
|
11 / 7739
|
|
30
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
31
|
(HPO:0003353)
|
Propionyl-CoA carboxylase deficiency |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
33
|
(HPO:0004396)
|
Poor appetite |
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0006846)
|
Acute encephalopathy |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
36
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
37
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
38
|
(HPO:0011695)
|
Cerebellar hemorrhage |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
39
|
(HPO:0002039)
|
Anorexia |
|
|
|
|
62 / 7739
|
|
40
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
41
|
(OMIM)
|
Dermatitis acidemica |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Ischemic stroke in the basal ganglia (rare) |
|
|
|
|
4 / 7739
|
|
43
|
(OMIM)
|
Elevated propionate |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Elevated 3-hydroxypropionic acid |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Elevated 3-methylcitric acid |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Serum carnitine deficiency |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
48
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
49
|
(HPO:0000738)
|
Hallucinations |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
50
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
51
|
(HPO:0002795)
|
Functional respiratory abnormality |
|
|
|
|
13 / 7739
|