|
1
|
(HPO:0001508)
|
Failure to thrive |
Very frequent [Orphanet]
|
|
16602095
|
IBIS
|
454 / 7739
|
|
2
|
(HPO:0001510)
|
Growth delay |
Very frequent [Orphanet]
|
|
10412819
|
IBIS
|
295 / 7739
|
|
3
|
(HPO:0011968)
|
Feeding difficulties |
Very frequent [Orphanet]
|
|
10412819
|
IBIS
|
240 / 7739
|
|
4
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
16602095
|
IBIS
|
28 / 7739
|
|
5
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
11073718
|
IBIS
|
77 / 7739
|
|
6
|
(HPO:0002209)
|
Sparse scalp hair |
Very frequent [Orphanet]
|
|
11073718
|
IBIS
|
59 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
11073718
|
IBIS
|
990 / 7739
|
|
8
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
10412819
|
IBIS
|
81 / 7739
|
|
9
|
(HPO:0003161)
|
4-Hydroxyphenylpyruvic aciduria |
|
|
10412819
|
IBIS
|
4 / 7739
|
|
10
|
(HPO:0003231)
|
Hypertyrosinemia |
|
|
16602095
|
IBIS
|
8 / 7739
|
|
11
|
(HPO:0003607)
|
4-Hydroxyphenylacetic aciduria |
|
|
20677779
|
IBIS
|
3 / 7739
|
|
12
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
20677779
|
IBIS
|
92 / 7739
|
|
13
|
(OMIM)
|
4-hydroxyphenylactic aciduria |
|
|
20677779
|
IBIS
|
1 / 7739
|
|
14
|
(OMIM)
|
4-hydroxycyclohexylacetic aciduria (adults) |
|
|
10412819
|
IBIS
|
1 / 7739
|
|
15
|
(HPO:0003637)
|
Reduced 4-Hydroxyphenylpyruvate dioxygenase activity |
|
|
16602095
|
IBIS
|
3 / 7739
|
|
16
|
(HPO:0002013)
|
Vomiting |
|
|
10412819; 20677779
|
IBIS
|
191 / 7739
|
|
17
|
(HPO:0002014)
|
Diarrhea |
|
|
20677779
|
IBIS
|
225 / 7739
|
|
18
|
(HPO:0000969)
|
Edema |
|
|
11073718
|
IBIS
|
117 / 7739
|