|
1
|
(HPO:0000725)
|
Psychotic episodes |
Rare [HPO:probinson]
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
3
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
4
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001733)
|
Pancreatitis |
|
|
|
|
46 / 7739
|
|
9
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
10
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
11
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0001956)
|
Truncal obesity |
|
|
|
|
39 / 7739
|
|
14
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
15
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
16
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
17
|
(HPO:0002018)
|
Nausea |
|
|
|
|
44 / 7739
|
|
18
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
19
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
|
20
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
21
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
22
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
23
|
(HPO:0003218)
|
Oroticaciduria |
|
|
|
|
10 / 7739
|
|
24
|
(HPO:0003281)
|
Increased serum ferritin |
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
26
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
27
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
|
28
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
29
|
(HPO:0012156)
|
Hemophagocytosis |
|
|
|
|
9 / 7739
|
|
30
|
(OMIM)
|
Decreased stature |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Thin extremities |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Interstitial changes on chest X-ray |
|
|
|
|
1 / 7739
|
|
33
|
(MedDRA:10001881)
|
Alveolar proteinosis |
|
|
|
|
5 / 7739
|
|
34
|
(MedDRA:10037394)
|
Pulmonary haemorrhage |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Aversion to protein-rich food |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Impaired intestinal absorption of cationic amino acids |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Chronic renal disease |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Impaired renal absorption of cationic amino acids |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Frequent fractures |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
41
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
42
|
(OMIM)
|
Coma may occur after force feeding of high protein diet |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Mental delay or retardation (uncommon) |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Psychotic episodes have been rarely reported |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Postprandial hyperammonemia |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Hyperammonemic coma |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Bone marrow may show hemophagocytosis |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Urinary excretion of cationic amino acids (lysine, arginine, ornithine) |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Decreased blood levels of cationic amino acids |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Hyperammonemia after protein intake |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Increased serum lactate hydrogenase |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
53
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
54
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
55
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
56
|
(HPO:0006517)
|
Alveolar proteinosis |
|
|
|
|
7 / 7739
|