Symptom Information: Sort according to HPO 

1
 (HPO:0000256) Macrocephaly 21963049; 26642971 IBIS 298 / 7739
2
 (HPO:0000316) Hypertelorism 21963049; 26642971; 27500280 IBIS 644 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 21963049 IBIS 524 / 7739
4
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
6
 (HPO:0000750) Delayed speech and language development 21963049 IBIS 197 / 7739
7
 (HPO:0001250) Seizures 21963049; 26642971 IBIS 1245 / 7739
8
 (HPO:0001263) Global developmental delay 26642971; 27500280 IBIS 853 / 7739
9
 (HPO:0001396) Cholestasis 26642971 IBIS 136 / 7739
10
 (HPO:0001397) Hepatic steatosis 21963049 IBIS 75 / 7739
11
 (HPO:0001410) Decreased liver function 21963049; 26642971 IBIS 59 / 7739
12
 (HPO:0001508) Failure to thrive 21963049; 26642971 IBIS 454 / 7739
13
 (HPO:0001631) Atria septal defect rare [HPO:skoehler] 21963049; 26642971 IBIS 274 / 7739
14
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
15
 (HPO:0001642) Pulmonic stenosis rare [HPO:skoehler] 21963049 IBIS 89 / 7739
16
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
17
 (HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
18
 (HPO:0001680) Coarctation of aorta rare [HPO:skoehler] 21963049 IBIS 57 / 7739
19
 (HPO:0005113) Dilatation of the aortic arch 12 / 7739
20
 (HPO:0001786) Narrow foot 21963049; 26642971 IBIS 11 / 7739
21
 (HPO:0002007) Frontal bossing 21963049; 26642971; 27500280 IBIS 366 / 7739
22
 (HPO:0002059) Cerebral atrophy 21963049 IBIS 171 / 7739
23
 (HPO:0002465) Poor speech 26642971 IBIS 31 / 7739
24
 (HPO:0002904) Hyperbilirubinemia 26642971 IBIS 32 / 7739
25
 (HPO:0002910) Elevated hepatic transaminases 26642971; 27500280 IBIS 158 / 7739
26
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
27
 (HPO:0003235) Hypermethioninemia 21963049; 26642971; 27500280 IBIS 8 / 7739
28
 (HPO:0006580) Portal fibrosis 21963049; 26642971 IBIS 10 / 7739
29
 (HPO:0001252) Muscular hypotonia 21963049; 27500280 IBIS 990 / 7739
30
 (HPO:0001324) Muscle weakness 859 / 7739
31
 (HPO:0008947) Infantile muscular hypotonia 21963049; 26642971 IBIS 482 / 7739
32
 (HPO:0010547) Muscle flaccidity 466 / 7739
33
 (HPO:0011344) Severe global developmental delay 21963049; 26642971 IBIS 46 / 7739
34
 (HPO:0002908) Conjugated hyperbilirubinemia 21963049 IBIS 21 / 7739
35
 (HPO:0001999) Abnormal facial shape 21963049; 27500280 IBIS 169 / 7739
36
 (HPO:0004283) Narrow palm 21963049; 26642971 IBIS 8 / 7739
37
 (HPO:0003323) Progressive muscle weakness 21963049 IBIS 17 / 7739
38
 (HPO:0003819) Death in childhood 21963049 IBIS 42 / 7739
39
 (HPO:0002415) Leukodystrophy 21963049 IBIS 30 / 7739
40
 (HPO:0001684) Secundum atrial septal defect 21963049 IBIS 14 / 7739
41
 (HPO:0001988) Recurrent hypoglycemia 26642971 IBIS 6 / 7739
42
 (HPO:0000961) Cyanosis 26642971 IBIS 60 / 7739
43
 (HPO:0002045) Hypothermia 26642971 IBIS 27 / 7739
44
 (HPO:0000842) Hyperinsulinemia 26642971 IBIS 39 / 7739
45
 (HPO:0001987) Hyperammonemia 26642971 IBIS 50 / 7739
46
 (HPO:0011682) Perimembranous ventricular septal defect 26642971 IBIS 6 / 7739
47
 (HPO:0001643) Patent ductus arteriosus 26642971; 27500280 IBIS 228 / 7739
48
 (HPO:0001655) Patent foramen ovale 26642971 IBIS 31 / 7739
49
 (HPO:0002240) Hepatomegaly 26642971; 27500280 IBIS 467 / 7739
50
 (HPO:0001522) Death in infancy 26642971 IBIS 275 / 7739
51
 (HPO:0001662) Bradycardia 26642971 IBIS 41 / 7739
52
 (HPO:0006566) Neonatal cholestatic liver disease 26642971 IBIS 2 / 7739
53
 (HPO:0000556) Retinal dystrophy 26642971 IBIS 65 / 7739
54
 (HPO:0000735) Impaired social interactions 26642971 IBIS 20 / 7739
55
 (HPO:0012115) Hepatitis 26642971 IBIS 24 / 7739
56
 (HPO:0006571) Reduced number of intrahepatic bile ducts 26642971 IBIS 4 / 7739
57
 (HPO:0001942) Metabolic acidosis 26642971 IBIS 81 / 7739
58
 (HPO:0001541) Ascites 26642971 IBIS 94 / 7739
59
 (HPO:0012736) Profound global developmental delay 26642971 IBIS 3 / 7739
60
 (HPO:0000164) Abnormality of the teeth 26642971 IBIS 291 / 7739
61
 (HPO:0001081) Cholelithiasis 26642971 IBIS 36 / 7739
62
 (HPO:0000494) Downslanted palpebral fissures 26642971; 27500280 IBIS 328 / 7739
63
 (HPO:0000445) Wide nose 26642971 IBIS 190 / 7739
64
 (HPO:0000369) Low-set ears 26642971 IBIS 372 / 7739
65
 (HPO:0011096) Peripheral demyelination 26642971 IBIS 28 / 7739
66
 (HPO:0003256) Abnormality of the coagulation cascade 26642971 IBIS 19 / 7739
67
 (HPO:0006254) Elevated alpha-fetoprotein 26642971 IBIS 10 / 7739
68
 (HPO:0011968) Feeding difficulties 26642971; 27500280 IBIS 240 / 7739
69
 (HPO:0002013) Vomiting 26642971 IBIS 191 / 7739
70
 (HPO:0001251) Ataxia 26642971 IBIS 413 / 7739
71
 (HPO:0006579) Prolonged neonatal jaundice 26642971 IBIS 25 / 7739
72
 (HPO:0001889) Megaloblastic anemia 26642971 IBIS 28 / 7739
73
 (HPO:0002209) Sparse scalp hair 26642971; 27500280 IBIS 59 / 7739
74
 (HPO:0000952) Jaundice 27500280 IBIS 105 / 7739
75
 (HPO:0002098) Respiratory distress 27500280 IBIS 75 / 7739
76
 (HPO:0011951) Aspiration pneumonia 27500280 IBIS 6 / 7739
77
 (HPO:0001629) Ventricular septal defect 27500280 IBIS 316 / 7739
78
 (HPO:0001945) Fever 27500280 IBIS 218 / 7739
79
 (HPO:0000737) Irritability 27500280 IBIS 93 / 7739
80
 (HPO:0002421) Poor head control 27500280 IBIS 23 / 7739
81
 (HPO:0030148) Heart murmur 27500280 IBIS 29 / 7739
82
 (HPO:0005518) Erythrocyte macrocytosis 27500280 IBIS 13 / 7739
83
 (HPO:0001051) Seborrheic dermatitis 27500280 IBIS 25 / 7739
84
 (HPO:0000988) Skin rash 27500280 IBIS 98 / 7739
85
 (MedDRA:10030963) Oral candidiasis 27500280 IBIS 4 / 7739
86
 (HPO:0005280) Depressed nasal bridge 27500280 IBIS 381 / 7739
87
 (HPO:0010668) Abnormality of the zygomatic bone 27500280 IBIS 1 / 7739
88
 (HPO:0000670) Carious teeth 27500280 IBIS 145 / 7739
89
 (MedDRA:10049733) Blood homocysteine increased 27500280 IBIS 1 / 7739
90
 (HPO:0004386) Gastrointestinal inflammation 27500280 IBIS 5 / 7739
91
 (HPO:0000016) Urinary retention 27500280 IBIS 7 / 7739
92
 (HPO:0000011) Neurogenic bladder 27500280 IBIS 11 / 7739