Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive Very frequent [IBIS] 21965116 IBIS 454 / 7739
2
 (HPO:0001010) Hypopigmentation of the skin Very frequent [IBIS] 26927810 IBIS 46 / 7739
3
 (HPO:0005599) Hypopigmentation of hair Very frequent [IBIS] 26927810 IBIS 38 / 7739
4
 (HPO:0001274) Agenesis of corpus callosum Very frequent [IBIS] 26927810 IBIS 142 / 7739
5
 (HPO:0000518) Cataract Very frequent [IBIS] 26927810 IBIS 454 / 7739
6
 (HPO:0001263) Global developmental delay Very frequent [IBIS] 25331754 IBIS 853 / 7739
7
 (HPO:0000519) Congenital cataract Very frequent [IBIS] 26927810 IBIS 73 / 7739
8
 (HPO:0001712) Left ventricular hypertrophy Very frequent [IBIS] 26927810 IBIS 76 / 7739
9
 (HPO:0007894) Hypopigmentation of the fundus Very frequent [IBIS] 26927810 IBIS 14 / 7739
10
 (HPO:0001638) Cardiomyopathy Very frequent [IBIS] 26927810 IBIS 192 / 7739
11
 (HPO:0010978) Abnormality of immune system physiology Very frequent [IBIS] 21964879 IBIS 148 / 7739
12
 (HPO:0001639) Hypertrophic cardiomyopathy Very frequent [IBIS] 26927810 IBIS 137 / 7739
13
 (HPO:0001644) Dilated cardiomyopathy Frequent [IBIS] 26927810 IBIS 141 / 7739
14
 (HPO:0000252) Microcephaly Frequent [IBIS] 26927810 IBIS 832 / 7739
15
 (HPO:0001510) Growth delay 23674064 IBIS 295 / 7739
16
 (HPO:0001320) Cerebellar vermis hypoplasia 26917586 IBIS 57 / 7739
17
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 3344762 IBIS 137 / 7739
18
 (HPO:0001022) Albinism 26927810 IBIS 43 / 7739
19
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 21965116 IBIS 990 / 7739
20
 (HPO:0001324) Muscle weakness 21965116 IBIS 859 / 7739
21
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 26927810 IBIS 20 / 7739
22
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 26927810 IBIS 180 / 7739
23
 (HPO:0002718) Recurrent bacterial infections 23674064 IBIS 75 / 7739
24
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 26927810 IBIS 644 / 7739
25
 (HPO:0000347) Micrognathia 20583151 IBIS 426 / 7739
26
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 26927810 IBIS 188 / 7739
27
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 26927810 IBIS 308 / 7739
28
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 26927810 IBIS 187 / 7739
29
 (HPO:0000639) Nystagmus Frequent [Orphanet] 26927810 IBIS 555 / 7739
30
 (HPO:0004313) Decreased antibody level in blood 21965116 IBIS 47 / 7739
31
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 26927810 IBIS 254 / 7739
32
 (HPO:0002536) Abnormal cortical gyration Frequent [Orphanet] 23091746 IBIS 72 / 7739
33
 (HPO:0001250) Seizures Frequent [Orphanet] 26927810 IBIS 1245 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 23091746 IBIS 1232 / 7739
35
 (HPO:0000124) Renal tubular dysfunction Frequent [Orphanet] 17163544 IBIS 46 / 7739
36
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 17163544 IBIS 113 / 7739
37
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] rare [HPO:skoehler] 26927810 IBIS 524 / 7739
38
 (HPO:0008527) Congenital sensorineural hearing impairment 20186778 IBIS 165 / 7739
39
 (HPO:0008625) Severe sensorineural hearing impairment 20186778 IBIS 150 / 7739
40
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 25331754 IBIS 83 / 7739
41
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 26927810 IBIS 266 / 7739
42
 (HPO:0001270) Motor delay 23674064 IBIS 322 / 7739
43
 (HPO:0000175) Cleft palate 20583151 IBIS 349 / 7739
44
 (HPO:0000204) Cleft upper lip 26927810 IBIS 193 / 7739
45
 (HPO:0000369) Low-set ears 21964879 IBIS 372 / 7739
46
 (HPO:0000777) Abnormality of the thymus 3344762 IBIS 9 / 7739
47
 (HPO:0001107) Ocular albinism 26927810 IBIS 40 / 7739
48
 (HPO:0001635) Congestive heart failure 26927810 IBIS 232 / 7739
49
 (HPO:0001941) Acidosis 26927810 IBIS 9 / 7739
50
 (HPO:0002533) Abnormal posturing 11932994 IBIS 6 / 7739
51
 (HPO:0002728) Chronic mucocutaneous candidiasis 26927810 IBIS 14 / 7739
52
 (HPO:0002841) Recurrent fungal infections 23674064 IBIS 16 / 7739
53
 (HPO:0002965) Cutaneous anergy 3344762 IBIS 7 / 7739
54
 (HPO:0003198) Myopathy 21965116 IBIS 151 / 7739
55
 (HPO:0003244) Penile hypospadias 23091746 IBIS 4 / 7739
56
 (HPO:0004315) IgG deficiency 3344762 IBIS 38 / 7739
57
 (HPO:0004429) Recurrent viral infections 23674064 IBIS 20 / 7739
58
 (HPO:0005407) Decreased number of CD4+ T cells 26482670 IBIS 6 / 7739
59
 (HPO:0005419) Decreased T cell activation 21964879 IBIS 4 / 7739
60
 (HPO:0007314) White matter neuronal heterotopia 26927810 IBIS 1 / 7739
61
 (HPO:0008348) Immunoglobulin IgG2 deficiency 3344762 IBIS 5 / 7739
62
 (HPO:0010636) Schizencephaly 23222957 IBIS 5 / 7739
63
 (OMIM) Post natal growth retardation 10405446 IBIS 1 / 7739
64
 (MedDRA:10071436) Systolic dysfunction 20583151 IBIS 13 / 7739
65
 (OMIM) Recurrent respiratory tract infections 3344762 IBIS 3 / 7739
66
 (HPO:0000047) Hypospadias 23091746 IBIS 250 / 7739
67
 (OMIM) Cutaneous albinism 10405446 IBIS 1 / 7739
68
 (HPO:0008947) Infantile muscular hypotonia 21965116 IBIS 482 / 7739
69
 (HPO:0010547) Muscle flaccidity 21965116 IBIS 466 / 7739
70
 (OMIM) Variation in fiber size 20186778 IBIS 8 / 7739
71
 (OMIM) Internal nuclei 20583151 IBIS 9 / 7739
72
 (OMIM) Abnormal mitochondria 26927810 IBIS 1 / 7739
73
 (OMIM) Numerous vacuole-like areas 23222957 IBIS 1 / 7739
74
 (OMIM) Redundancy of basal lamina with accumulated debris 20186778 IBIS 1 / 7739
75
 (HPO:0011344) Severe global developmental delay 21964879 IBIS 46 / 7739
76
 (OMIM) Bilateral schizencephaly 23222957 IBIS 1 / 7739
77
 (OMIM) Skin anergy to recall antigens 3344762 IBIS 1 / 7739
78
 (OMIM) Defective humoral response 21965116 IBIS 1 / 7739
79
 (OMIM) Reduced IgG levels, particularly IgG2 subclass 3344762 IBIS 1 / 7739
80
 (OMIM) Normal IgA levels 20583151 IBIS 1 / 7739
81
 (OMIM) Normal IgM levels 20583151 IBIS 1 / 7739
82
 (HPO:0008059) Aplasia/Hypoplasia of the macula Occasional [Orphanet] 25331754 IBIS 21 / 7739
83
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 23091746 IBIS 492 / 7739
84
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 26927810 IBIS 187 / 7739
85
 (HPO:0010701) Abnormal immunoglobulin level Occasional [Orphanet] 21965116 IBIS 49 / 7739
86
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 20583151 IBIS 394 / 7739
87
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 26917586 IBIS 949 / 7739