|
1
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
2
|
(HPO:0100825)
|
Cheilitis |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
13
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
14
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
15
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
16
|
(HPO:0000958)
|
Dry skin |
Occasional [Orphanet]
|
|
|
|
152 / 7739
|
|
17
|
(HPO:0000988)
|
Skin rash |
|
|
|
|
98 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
20
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
21
|
(HPO:0001992)
|
Organic aciduria |
|
|
|
|
28 / 7739
|
|
22
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
23
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
24
|
(HPO:0002883)
|
Hyperventilation |
|
|
|
|
10 / 7739
|
|
25
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
26
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
27
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
28
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
29
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
30
|
(OMIM)
|
Mild-moderate hyperammonemia |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Holocarboxylase synthetase deficiency |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Normal serum biotin concentration |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
34
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|