Symptom Information: Sort according to HPO 

1
 (HPO:0001928) Abnormality of coagulation Very frequent [IBIS] 90% (n=10) 24144945 IBIS 44 / 7739
2
 (HPO:0001644) Dilated cardiomyopathy Frequent [IBIS] 83% (n=18) 24144945 IBIS 141 / 7739
3
 (HPO:0008064) Ichthyosis Frequent [IBIS] 53% (n=17) 24144945 IBIS 108 / 7739
4
 (HPO:0000958) Dry skin Frequent [IBIS] 53% (n=17) 24144945 IBIS 152 / 7739
5
 (HPO:0001019) Erythroderma Frequent [IBIS] 53% (n=17) 24144945 IBIS 24 / 7739
6
 (HPO:0001263) Global developmental delay Frequent [IBIS] 43% (n=14) 24144945 IBIS 853 / 7739
7
 (HPO:0001250) Seizures Frequent [IBIS] 39% (n=18) 24144945 IBIS 1245 / 7739
8
 (HPO:0001252) Muscular hypotonia Frequent [IBIS] 39% (n=18) 24144945 IBIS 990 / 7739
9
 (HPO:0002910) Elevated hepatic transaminases Frequent [IBIS] 38% (n=18) 24144945 IBIS 158 / 7739
10
 (HPO:0003236) Elevated serum creatine phosphokinase Occasional [IBIS] 22% (n=11) 24144945 IBIS 214 / 7739
11
 (HPO:0001892) Abnormal bleeding 24144945 IBIS 85 / 7739
12
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 24144945 IBIS 467 / 7739
13
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 24144945 IBIS 187 / 7739
14
 (HPO:0000535) Sparse and thin eyebrow 17273964 IBIS 76 / 7739
15
 (HPO:0000653) Sparse eyelashes 17273964 IBIS 58 / 7739
16
 (HPO:0001324) Muscle weakness 22242004 IBIS 859 / 7739
17
 (HPO:0001508) Failure to thrive 22327749 IBIS 454 / 7739
18
 (HPO:0001510) Growth delay 22327749 IBIS 295 / 7739
19
 (HPO:0001985) Hypoketotic hypoglycemia 17273964 IBIS 11 / 7739
20
 (HPO:0002521) Hypsarrhythmia 17273964 IBIS 43 / 7739
21
 (HPO:0003160) Abnormal isoelectric focusing of serum transferrin 22327749 IBIS 10 / 7739
22
 (HPO:0005484) Postnatal microcephaly 17273964 IBIS 32 / 7739
23
 (OMIM) Birth length normal 17273964 IBIS 15 / 7739
24
 (OMIM) Birth weight normal 17273964 IBIS 14 / 7739
25
 (OMIM) Normal birth head circumference 17273964 IBIS 2 / 7739
26
 (OMIM) Minimal hair growth 17273964 IBIS 1 / 7739
27
 (OMIM) Increased disialo- and asialotransferrin 22327749 IBIS 1 / 7739
28
 (OMIM) Decreased lipid-linked oligosaccharides (LLO) 17273964 IBIS 1 / 7739
29
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 22327749 IBIS 949 / 7739
30
 (HPO:0004322) Short stature 22327749 IBIS 1232 / 7739
31
 (HPO:0001875) Neutropenia 22327749 IBIS 83 / 7739
32
 (HPO:0001935) Microcytic anemia 22327749 IBIS 32 / 7739
33
 (HPO:0011675) Arrhythmia 22327749 IBIS 226 / 7739
34
 (HPO:0001663) Ventricular fibrillation 22327749 IBIS 35 / 7739
35
 (HPO:0004756) Ventricular tachycardia 22327749 IBIS 55 / 7739
36
 (HPO:0001976) Reduced antithrombin III activity 22327749 IBIS 10 / 7739
37
 (HPO:0001882) Leukopenia 22327749 IBIS 51 / 7739
38
 (HPO:0003642) Type I transferrin isoform profile 22327749 IBIS 16 / 7739
39
 (HPO:0000963) Thin skin 17273964 IBIS 96 / 7739
40
 (HPO:0000639) Nystagmus 17273964 IBIS 555 / 7739
41
 (HPO:0002445) Tetraplegia 17273964 IBIS 26 / 7739
42
 (HPO:0001596) Alopecia 17273964 IBIS 162 / 7739
43
 (HPO:0006829) Severe muscular hypotonia 22327749 IBIS 29 / 7739
44
 (HPO:0011097) Epileptic spasms 23890587 IBIS 45 / 7739
45
 (HPO:0001776) Bilateral talipes equinovarus 24144945 IBIS 8 / 7739
46
 (HPO:0000960) Sacral dimple 24144945 IBIS 29 / 7739
47
 (HPO:0002104) Apnea 24144945 IBIS 106 / 7739
48
 (HPO:0000961) Cyanosis 24144945 IBIS 60 / 7739
49
 (HPO:0001662) Bradycardia 24144945 IBIS 41 / 7739
50
 (HPO:0003074) Hyperglycemia 24144945 IBIS 37 / 7739
51
 (HPO:0000083) Renal insufficiency 24144945 IBIS 232 / 7739
52
 (HPO:0100543) Cognitive impairment 23890587 IBIS 230 / 7739
53
 (HPO:0000486) Strabismus 23890587 IBIS 576 / 7739