Symptom Information: Sort according to HPO 

1
 (HPO:0008064) Ichthyosis Very frequent [IBIS] 12838552; 3415310 IBIS 108 / 7739
2
 (HPO:0003656) Decreased beta-glucocerebrosidase protein and activity Very frequent [IBIS] 12838552; 3415310; 1437405; 8599361; 10352942; 10685993; 10756347 IBIS 5 / 7739
3
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma Very frequent [IBIS] 12838552; 3415310; 1437405; 8599361; 8929950; 10352942; 10685993; 10756347 IBIS 13 / 7739
4
 (HPO:0001433) Hepatosplenomegaly Very frequent [IBIS] 12838552; 3415310; 1437405; 8599361; 8929950; 10352942; 10685993 IBIS 78 / 7739
5
 (OMIM) Gaucher cells Very frequent [IBIS] 1437405; 8929950; 10352942; 10685993; 10756347 IBIS 2 / 7739
6
 (HPO:0001873) Thrombocytopenia Frequent [IBIS] 12838552; 3415310; 8929950; 10352942; 10685993 IBIS 224 / 7739
7
 (HPO:0001561) Polyhydramnios Frequent [IBIS] 12838552; 3415310; 1437405; 8929950; 10756347 IBIS 191 / 7739
8
 (HPO:0002104) Apnea Frequent [IBIS] 3415310; 1437405; 10685993; 10756347 IBIS 106 / 7739
9
 (HPO:0001999) Abnormal facial shape Frequent [IBIS] 12838552; 8929950; 10352942; 10685993 IBIS 169 / 7739
10
 (HPO:0000377) Abnormality of the pinna Frequent [IBIS] 12838552; 8929950; 10352942; 10685993 IBIS 111 / 7739
11
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 8599361 IBIS 990 / 7739
12
 (HPO:0000369) Low-set ears 12838552; 10685993 IBIS 372 / 7739
13
 (HPO:0001276) Hypertonia Frequent [Orphanet] 1437405 IBIS 317 / 7739
14
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 8929950; 10352942 IBIS 63 / 7739
15
 (HPO:0001250) Seizures Frequent [Orphanet] 3415310 IBIS 1245 / 7739
16
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 10685993 IBIS 467 / 7739
17
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 10685993 IBIS 308 / 7739
18
 (HPO:0002170) Intracranial hemorrhage Very frequent [Orphanet] 5422102 IBIS 40 / 7739
19
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 12838552; 10685993 IBIS 381 / 7739
20
 (HPO:0000160) Narrow mouth 10352942 IBIS 188 / 7739
21
 (HPO:0000194) Open mouth 1437405 IBIS 70 / 7739
22
 (HPO:0000252) Microcephaly 12838552 IBIS 832 / 7739
23
 (HPO:0000316) Hypertelorism 12838552 IBIS 644 / 7739
24
 (HPO:0000325) Triangular face 10352942 IBIS 91 / 7739
25
 (HPO:0000463) Anteverted nares 12838552 IBIS 305 / 7739
26
 (HPO:0000486) Strabismus 8599361 IBIS 576 / 7739
27
 (HPO:0000741) Apathy 3415310 IBIS 42 / 7739
28
 (HPO:0005595) Generalized hyperkeratosis 3415310 IBIS 14 / 7739
29
 (HPO:0000979) Purpura 12838552 IBIS 27 / 7739
30
 (HPO:0001511) Intrauterine growth retardation 12838552 IBIS 358 / 7739
31
 (HPO:0001558) Decreased fetal movement 1437405; 10685993 IBIS 74 / 7739
32
 (HPO:0001640) Cardiomegaly 12838552 IBIS 81 / 7739
33
 (HPO:0001790) Nonimmune hydrops fetalis 12838552 IBIS 15 / 7739
34
 (HPO:0001903) Anemia 12838552 IBIS 289 / 7739
35
 (HPO:0002015) Dysphagia 1437405; 8599361; 10685993 IBIS 301 / 7739
36
 (HPO:0002179) Opisthotonus 3415310; 8599361 IBIS 35 / 7739
37
 (HPO:0002304) Akinesia 12838552 IBIS 18 / 7739
38
 (HPO:0002375) Hypokinesia 8929950; 10352942 IBIS 25 / 7739
39
 (HPO:0001371) Flexion contracture 1437405; 10352942 IBIS 220 / 7739
40
 (HPO:0002804) Arthrogryposis multiplex congenita 12838552; 1437405; 10756347 IBIS 93 / 7739
41
 (HPO:0005684) Distal arthrogryposis 12838552 IBIS 31 / 7739
42
 (HPO:0003196) Short nose 12838552 IBIS 264 / 7739
43
 (HPO:0005257) Thoracic hypoplasia 10352942 IBIS 79 / 7739
44
 (HPO:0007549) Desquamation of skin soon after birth 3415310; 8599361 IBIS 2 / 7739
45
 (HPO:0000271) Abnormality of the face 12838552 IBIS 108 / 7739
46
 (HPO:0003826) Stillbirth 12838552; 10352942 IBIS 40 / 7739
47
 (HPO:0002643) Neonatal respiratory distress 12838552 IBIS 22 / 7739
48
 (HPO:0001562) Oligohydramnios 12838552 IBIS 75 / 7739
49
 (HPO:0002119) Ventriculomegaly 12838552 IBIS 253 / 7739
50
 (HPO:0002244) Abnormality of the small intestine 12838552 IBIS 12 / 7739
51
 (HPO:0012385) Camptodactyly 12838552 IBIS 113 / 7739
52
 (HPO:0010557) Overlapping fingers 12838552 IBIS 9 / 7739
53
 (HPO:0001762) Talipes equinovarus 12838552 IBIS 309 / 7739
54
 (HPO:0000952) Jaundice 12838552 IBIS 105 / 7739
55
 (MedDRA:10049862) Abnormal clotting factor 12838552 IBIS 1 / 7739
56
 (HPO:0001928) Abnormality of coagulation 12838552 IBIS 44 / 7739
57
 (HPO:0001892) Abnormal bleeding 12838552; 10756347 IBIS 85 / 7739
58
 (HPO:0002910) Elevated hepatic transaminases 12838552 IBIS 158 / 7739
59
 (HPO:0011414) Hydropic placenta 12838552 IBIS 3 / 7739
60
 (HPO:0002089) Pulmonary hypoplasia 12838552; 8929950 IBIS 80 / 7739
61
 (HPO:0002605) Hepatic necrosis 12838552 IBIS 6 / 7739
62
 (HPO:0001392) Abnormality of the liver 12838552 IBIS 28 / 7739
63
 (HPO:0001978) Extramedullary hematopoiesis 12838552 IBIS 6 / 7739
64
 (HPO:0001700) Myocardial necrosis 12838552 IBIS 6 / 7739
65
 (HPO:0002446) Astrocytosis 12838552 IBIS 7 / 7739
66
 (HPO:0100708) Abnormality of the microglia 12838552 IBIS 1 / 7739
67
 (HPO:0002514) Cerebral calcification 12838552 IBIS 89 / 7739
68
 (HPO:0002143) Abnormality of the spinal cord 12838552 IBIS 4 / 7739
69
 (HPO:0003811) Neonatal death 12838552 IBIS 44 / 7739
70
 (MedDRA:10023891) Laryngospasm 3415310 IBIS 4 / 7739
71
 (HPO:0001600) Abnormality of the larynx 3415310 IBIS 15 / 7739
72
 (HPO:0002803) Congenital contracture 3415310; 10756347 IBIS 45 / 7739
73
 (HPO:0001319) Neonatal hypotonia 3415310 IBIS 101 / 7739
74
 (HPO:0001347) Hyperreflexia 1437405 IBIS 363 / 7739
75
 (OMIM) Hyperextension of the neck 1437405; 10685993 IBIS 2 / 7739
76
 (HPO:0002033) Poor suck 1437405 IBIS 37 / 7739
77
 (HPO:0001072) Thickened skin 1437405 IBIS 87 / 7739
78
 (HPO:0000457) Depressed nasal ridge 1437405; 8929950 IBIS 85 / 7739
79
 (HPO:0000520) Proptosis 1437405 IBIS 192 / 7739
80
 (HPO:0011181) Low voltage EEG 1437405 IBIS 1 / 7739
81
 (HPO:0006543) Cardiorespiratory arrest 8599361 IBIS 11 / 7739
82
 (HPO:0002882) Sudden episodic apnea 8599361 IBIS 3 / 7739
83
 (HPO:0001290) Generalized hypotonia 8599361 IBIS 51 / 7739
84
 (HPO:0001257) Spasticity 8599361 IBIS 251 / 7739
85
 (HPO:0002376) Developmental regression 8599361; 10685993 IBIS 74 / 7739
86
 (HPO:0002202) Pleural effusion 8929950 IBIS 22 / 7739
87
 (HPO:0002828) Multiple joint contractures 8929950 IBIS 16 / 7739
88
 (HPO:0003202) Skeletal muscle atrophy 8929950 IBIS 281 / 7739
89
 (HPO:0000430) Underdeveloped nasal alae 8929950 IBIS 90 / 7739
90
 (HPO:0000656) Ectropion 10685993 IBIS 25 / 7739
91
 (HPO:0006380) Knee flexion contracture 10685993 IBIS 56 / 7739
92
 (HPO:0001220) Interphalangeal joint contracture of finger 10685993 IBIS 5 / 7739
93
 (HPO:0000496) Abnormality of eye movement 10685993 IBIS 79 / 7739
94
 (HPO:0010952) Mild fetal ventriculomegaly 10756347 IBIS 1 / 7739
95
 (HPO:0011427) Enlarged fetal cisterna magna 10756347 IBIS 1 / 7739
96
 (HPO:0002107) Pneumothorax 10756347 IBIS 7 / 7739
97
 (HPO:0001942) Metabolic acidosis 10756347 IBIS 81 / 7739
98
 (HPO:0007686) Abnormal pupillary function 10756347 IBIS 3 / 7739
99
 (HPO:0002093) Respiratory insufficiency 10756347 IBIS 410 / 7739