1
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
16435181
|
IBIS
|
853 / 7739
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
15024124
|
IBIS
|
322 / 7739
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
6
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
7
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
8
|
(HPO:0003235)
|
Hypermethioninemia |
|
|
20852937; 16736098
|
IBIS
|
8 / 7739
|
9
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
15024124; 16435181
|
IBIS
|
51 / 7739
|
10
|
(MedDRA:10041052)
|
Sluggishness |
|
|
15024124
|
IBIS
|
1 / 7739
|
11
|
(HPO:0002421)
|
Poor head control |
|
|
15024124
|
IBIS
|
23 / 7739
|
12
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
15024124
|
IBIS
|
160 / 7739
|
13
|
(HPO:0000565)
|
Esotropia |
|
|
15024124
|
IBIS
|
58 / 7739
|
14
|
(HPO:0001763)
|
Pes planus |
|
|
15024124
|
IBIS
|
176 / 7739
|
15
|
(HPO:0200123)
|
Chronic hepatitis |
|
|
15024124
|
IBIS
|
4 / 7739
|
16
|
(HPO:0002090)
|
Pneumonia |
|
|
26527160
|
IBIS
|
59 / 7739
|
17
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
26527160; 20852937
|
IBIS
|
158 / 7739
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
26527160; 20852937; 16736098
|
IBIS
|
214 / 7739
|
19
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
26527160; 20852937
|
IBIS
|
40 / 7739
|
20
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
26527160; 20852937
|
IBIS
|
44 / 7739
|
21
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
26527160
|
IBIS
|
224 / 7739
|
22
|
(HPO:0004840)
|
Hypochromic microcytic anemia |
|
|
26527160
|
IBIS
|
15 / 7739
|
23
|
(HPO:0001744)
|
Splenomegaly |
|
|
26527160
|
IBIS
|
337 / 7739
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
26527160; 16736098
|
IBIS
|
859 / 7739
|
25
|
(HPO:0012378)
|
Fatigue |
|
|
26527160
|
IBIS
|
50 / 7739
|
26
|
(HPO:0006254)
|
Elevated alpha-fetoprotein |
|
|
26527160
|
IBIS
|
10 / 7739
|
27
|
(MedDRA:10057962)
|
Rheumatoid factor increased |
|
|
26527160
|
IBIS
|
1 / 7739
|
28
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
26527160
|
IBIS
|
25 / 7739
|
29
|
(HPO:0003198)
|
Myopathy |
|
|
20852937
|
IBIS
|
151 / 7739
|
30
|
(HPO:0001522)
|
Death in infancy |
|
|
20852937
|
IBIS
|
275 / 7739
|
31
|
(HPO:0010310)
|
Chylothorax |
|
|
20852937
|
IBIS
|
6 / 7739
|
32
|
(HPO:0008151)
|
Prolonged prothrombin time |
|
|
20852937
|
IBIS
|
13 / 7739
|
33
|
(HPO:0003645)
|
Prolonged partial thromboplastin time |
|
|
20852937
|
IBIS
|
20 / 7739
|
34
|
(HPO:0011900)
|
Hypofibrinogenemia |
|
|
20852937
|
IBIS
|
8 / 7739
|
35
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
20852937
|
IBIS
|
27 / 7739
|
36
|
(HPO:0002202)
|
Pleural effusion |
|
|
20852937
|
IBIS
|
22 / 7739
|
37
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
20852937
|
IBIS
|
482 / 7739
|
38
|
(HPO:0002878)
|
Respiratory failure |
|
|
20852937
|
IBIS
|
57 / 7739
|
39
|
(HPO:0001640)
|
Cardiomegaly |
|
|
20852937
|
IBIS
|
81 / 7739
|
40
|
(MedDRA:10051139)
|
Foetal heart rate abnormal |
|
|
20852937
|
IBIS
|
2 / 7739
|
41
|
(HPO:0002104)
|
Apnea |
|
|
20852937
|
IBIS
|
106 / 7739
|
42
|
(HPO:0001662)
|
Bradycardia |
|
|
20852937
|
IBIS
|
41 / 7739
|
43
|
(HPO:0000218)
|
High palate |
|
|
20852937
|
IBIS
|
356 / 7739
|
44
|
(HPO:0001790)
|
Nonimmune hydrops fetalis |
|
|
20852937
|
IBIS
|
15 / 7739
|
45
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
20852937
|
IBIS
|
101 / 7739
|
46
|
(HPO:0002013)
|
Vomiting |
|
|
20852937
|
IBIS
|
191 / 7739
|
47
|
(HPO:0006850)
|
Hypoplasia of the ventral pons |
|
|
20852937
|
IBIS
|
3 / 7739
|
48
|
(HPO:0011400)
|
Abnormal CNS myelination |
|
|
20852937
|
IBIS
|
10 / 7739
|
49
|
(HPO:0002171)
|
Gliosis |
|
|
20852937
|
IBIS
|
48 / 7739
|
50
|
(HPO:0012443)
|
Abnormality of brain morphology |
|
|
20852937
|
IBIS
|
45 / 7739
|
51
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
16736098
|
IBIS
|
10 / 7739
|
52
|
(MedDRA:10013486)
|
Distractibility |
|
|
16736098
|
IBIS
|
2 / 7739
|
53
|
(HPO:0000736)
|
Short attention span |
|
|
16736098
|
IBIS
|
16 / 7739
|
54
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
16736098
|
IBIS
|
35 / 7739
|
55
|
(HPO:0010529)
|
Echolalia |
|
|
16736098
|
IBIS
|
20 / 7739
|
56
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
16435181
|
IBIS
|
22 / 7739
|
57
|
(HPO:0001385)
|
Hip dysplasia |
|
|
16435181
|
IBIS
|
242 / 7739
|
58
|
(HPO:0000486)
|
Strabismus |
|
|
16435181
|
IBIS
|
576 / 7739
|
59
|
(HPO:0012448)
|
Delayed myelination |
|
|
16435181
|
IBIS
|
51 / 7739
|
60
|
(HPO:0006892)
|
Frontotemporal cerebral atrophy |
|
|
16435181
|
IBIS
|
3 / 7739
|