Symptom Information: Sort according to HPO 

1
 (HPO:0000588) Optic nerve coloboma Frequent [Orphanet] 27 / 7739
2
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
3
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
4
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
5
 (HPO:0001324) Muscle weakness 859 / 7739
6
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
7
 (HPO:0001409) Portal hypertension Occasional [Orphanet] 39 / 7739
8
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
9
 (HPO:0005248) Intrahepatic biliary atresia Very frequent [Orphanet] 6 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
12
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
13
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
14
 (HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
15
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
16
 (HPO:0010285) Oral synechia Occasional [Orphanet] 31 / 7739
17
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
18
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
19
 (HPO:0000657) Oculomotor apraxia Very frequent [Orphanet] 54 / 7739
20
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
21
 (HPO:0001250) Seizures Occasional [Orphanet] rare [HPO:skoehler] 1245 / 7739
22
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
23
 (HPO:0002084) Encephalocele Occasional [Orphanet] 70 / 7739
24
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
25
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
26
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
27
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
28
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
29
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
30
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
31
 (HPO:0002896) Neoplasm of the liver Occasional [Orphanet] 17 / 7739
32
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
33
 (HPO:0002612) Congenital hepatic fibrosis Very frequent [Orphanet] 16 / 7739
34
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
35
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
36
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
37
 (HPO:0100626) Chronic hepatic failure Occasional [Orphanet] 7 / 7739
38
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
39
 (HPO:0002104) Apnea Very frequent [Orphanet] 106 / 7739
40
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
41
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
42
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
43
 (HPO:0001249) Intellectual disability 1089 / 7739
44
 (HPO:0001263) Global developmental delay 853 / 7739
45
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 96 / 7739
46
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Occasional [Orphanet] 23 / 7739
47
 (HPO:0000090) Nephronophthisis 42 / 7739
48
 (HPO:0000154) Wide mouth 137 / 7739
49
 (HPO:0000311) Round face 104 / 7739
50
 (HPO:0000316) Hypertelorism 644 / 7739
51
 (HPO:0000589) Coloboma 47 / 7739
52
 (HPO:0001257) Spasticity 251 / 7739
53
 (HPO:0001395) Hepatic fibrosis 67 / 7739
54
 (HPO:0001510) Growth delay 295 / 7739
55
 (HPO:0002085) Occipital encephalocele 20 / 7739
56
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
57
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
58
 (HPO:0002910) Elevated hepatic transaminases Very frequent [Orphanet] 158 / 7739
59
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
60
 (HPO:0008659) Multiple small medullary renal cysts 4 / 7739
61
 (OMIM) Abnormal breathing pattern 8 / 7739
62
 (OMIM) Ductal plate malformation 5 / 7739
63
 (OMIM) Bile duct dilatation 2 / 7739
64
 (OMIM) Medullary cystic renal disease 1 / 7739
65
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
66
 (HPO:0010547) Muscle flaccidity 466 / 7739
67
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
68
 (HPO:0002793) Abnormal pattern of respiration Very frequent [Orphanet] 26 / 7739
69
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
70
 (HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
71
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
72
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
73
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
74
 (HPO:0001425) Heterogeneous 132 / 7739
75
 (HPO:0003593) Infantile onset 249 / 7739