1
|
(HPO:0000648)
|
Optic atrophy |
Very frequent [IBIS]
|
|
23981289; 22790102; 25211237; 26742931; 25173644; 24890733; 23595122; 23429432; 23338790; 22792385; 21564155
|
IBIS
|
238 / 7739
|
2
|
(HPO:0000819)
|
Diabetes mellitus |
Very frequent [IBIS]
|
|
23981289; 22790102; 25211237; 26742931; 25173644; 24890733; 24117146; 23595122; 23429432; 23373429; 23338790; 22792385; 21564155
|
IBIS
|
131 / 7739
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [IBIS]
|
|
26742931; 23595122; 23373429
|
IBIS
|
524 / 7739
|
4
|
(HPO:0000873)
|
Diabetes insipidus |
Frequent [IBIS]
|
|
23981289; 22790102; 25211237; 26742931; 25173644; 23429432; 22792385; 21564155
|
IBIS
|
34 / 7739
|
5
|
(HPO:0000365)
|
Hearing impairment |
Frequent [IBIS]
|
|
23981289; 22790102; 25211237; 25173644; 23429432; 22792385; 21564155
|
IBIS
|
539 / 7739
|
6
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [IBIS]
|
|
26742931
|
IBIS
|
88 / 7739
|
7
|
(HPO:0000011)
|
Neurogenic bladder |
|
|
23981289; 22790102; 26742931; 25173644; 25173644; 24890733; 23373429; 21564155
|
IBIS
|
11 / 7739
|
8
|
(HPO:0000072)
|
Hydroureter |
|
|
22790102; 25173644
|
IBIS
|
146 / 7739
|
9
|
(HPO:0000126)
|
Hydronephrosis |
|
|
25173644; 23373429
|
IBIS
|
119 / 7739
|
10
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
26742931
|
IBIS
|
150 / 7739
|
11
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
22790102
|
IBIS
|
49 / 7739
|
12
|
(HPO:0000639)
|
Nystagmus |
|
|
23981289; 22790102; 23429432
|
IBIS
|
555 / 7739
|
13
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
22790102; 25211237; 23595122; 23429432
|
IBIS
|
212 / 7739
|
14
|
(HPO:0000821)
|
Hypothyroidism |
|
|
24890733
|
IBIS
|
141 / 7739
|
15
|
(HPO:0001270)
|
Motor delay |
|
|
24890733
|
IBIS
|
322 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
|
|
22790102; 26742931
|
IBIS
|
1245 / 7739
|
17
|
(HPO:0001251)
|
Ataxia |
|
|
26742931; 24890733; 23429432; 21564155
|
IBIS
|
413 / 7739
|
18
|
(HPO:0002066)
|
Gait ataxia |
|
|
22792385
|
IBIS
|
327 / 7739
|
19
|
(HPO:0002311)
|
Incoordination |
|
|
22792385
|
IBIS
|
84 / 7739
|
20
|
(HPO:0001260)
|
Dysarthria |
|
|
26742931
|
IBIS
|
329 / 7739
|
21
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
22790102
|
IBIS
|
76 / 7739
|
22
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
21564155
|
IBIS
|
192 / 7739
|
23
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
21564155
|
IBIS
|
224 / 7739
|
24
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
21564155
|
IBIS
|
28 / 7739
|
25
|
(HPO:0002015)
|
Dysphagia |
|
|
26742931; 23429432
|
IBIS
|
301 / 7739
|
26
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
26742931; 22790102
|
IBIS
|
171 / 7739
|
27
|
(HPO:0012444)
|
Brain atrophy |
|
|
22790102; 22792385
|
IBIS
|
24 / 7739
|
28
|
(HPO:0000543)
|
Optic disc pallor |
|
|
23981289; 24117146; 23373429
|
IBIS
|
67 / 7739
|
29
|
(HPO:0000551)
|
Abnormality of color vision |
|
|
23981289; 22792385
|
IBIS
|
20 / 7739
|
30
|
(HPO:0004408)
|
Abnormality of the sense of smell |
|
|
23981289; 26742931
|
IBIS
|
28 / 7739
|
31
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
23981289; 22792385
|
IBIS
|
26 / 7739
|
32
|
(HPO:0000805)
|
Enuresis |
|
|
23981289; 24890733
|
IBIS
|
11 / 7739
|
33
|
(HPO:0000017)
|
Nocturia |
|
|
23981289; 25173644
|
IBIS
|
5 / 7739
|
34
|
(HPO:0000016)
|
Urinary retention |
|
|
23981289; 22790102
|
IBIS
|
7 / 7739
|
35
|
(HPO:0002173)
|
Hypoglycemic seizures |
|
|
23981289
|
IBIS
|
19 / 7739
|
36
|
(HPO:0002373)
|
Febrile seizures |
|
|
23981289
|
IBIS
|
37 / 7739
|
37
|
(HPO:0000733)
|
Stereotypy |
|
|
23981289
|
IBIS
|
58 / 7739
|
38
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
23981289
|
IBIS
|
35 / 7739
|
39
|
(HPO:0008765)
|
Auditory hallucinations |
|
|
23981289
|
IBIS
|
8 / 7739
|
40
|
(HPO:0002019)
|
Constipation |
|
|
23981289; 26742931
|
IBIS
|
194 / 7739
|
41
|
(HPO:0000224)
|
Decreased taste sensation |
|
|
23981289; 26742931
|
IBIS
|
6 / 7739
|
42
|
(HPO:0001953)
|
Diabetic ketoacidosis |
|
|
23981289
|
IBIS
|
6 / 7739
|
43
|
(HPO:0001288)
|
Gait disturbance |
|
|
23981289
|
IBIS
|
318 / 7739
|
44
|
(HPO:0000458)
|
Anosmia |
|
|
23981289; 22790102
|
IBIS
|
49 / 7739
|
45
|
(HPO:0004409)
|
Hyposmia |
|
|
23981289
|
IBIS
|
16 / 7739
|
46
|
(HPO:0012503)
|
Abnormality of the pituitary gland |
|
|
23981289
|
IBIS
|
2 / 7739
|
47
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
23981289
|
IBIS
|
41 / 7739
|
48
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
23981289
|
IBIS
|
114 / 7739
|
49
|
(HPO:0030532)
|
Visual acuity test abnormality |
|
|
23981289
|
IBIS
|
4 / 7739
|
50
|
(HPO:0000518)
|
Cataract |
|
|
23981289; 22790102; 26742931; 24890733; 21564155
|
IBIS
|
454 / 7739
|
51
|
(HPO:0030211)
|
Slow pupillary light response |
|
|
23981289
|
IBIS
|
2 / 7739
|
52
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
23981289
|
IBIS
|
32 / 7739
|
53
|
(HPO:0003739)
|
Myoclonic spasms |
|
|
22790102
|
IBIS
|
7 / 7739
|
54
|
(HPO:0004322)
|
Short stature |
|
|
22790102; 24890733; 21564155
|
IBIS
|
1232 / 7739
|
55
|
(HPO:0009806)
|
Nephrogenic diabetes insipidus |
|
|
22790102
|
IBIS
|
8 / 7739
|
56
|
(HPO:0001081)
|
Cholelithiasis |
|
|
22790102
|
IBIS
|
36 / 7739
|
57
|
(HPO:0030151)
|
Cholangitis |
|
|
22790102
|
IBIS
|
10 / 7739
|
58
|
(HPO:0002470)
|
Nonprogressive cerebellar ataxia |
|
|
22790102; 25173644; 24890733
|
IBIS
|
4 / 7739
|
59
|
(HPO:0100543)
|
Cognitive impairment |
|
|
22790102; 21564155
|
IBIS
|
230 / 7739
|
60
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
22790102
|
IBIS
|
141 / 7739
|
61
|
(MedDRA:10012689)
|
Diabetic retinopathy |
|
|
22790102
|
IBIS
|
1 / 7739
|
62
|
(HPO:0007695)
|
Abnormal pupillary light reflex |
|
|
22790102
|
IBIS
|
2 / 7739
|
63
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
|
|
22790102
|
IBIS
|
20 / 7739
|
64
|
(HPO:0000501)
|
Glaucoma |
|
|
22790102; 24890733; 23373429
|
IBIS
|
180 / 7739
|
65
|
(HPO:0002171)
|
Gliosis |
|
|
22790102
|
IBIS
|
48 / 7739
|
66
|
(HPO:0005101)
|
High-frequency hearing impairment |
|
|
22790102
|
IBIS
|
16 / 7739
|
67
|
(HPO:0002078)
|
Truncal ataxia |
|
|
22790102
|
IBIS
|
41 / 7739
|
68
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
22790102
|
IBIS
|
61 / 7739
|
69
|
(HPO:0001336)
|
Myoclonus |
|
|
22790102
|
IBIS
|
115 / 7739
|
70
|
(HPO:0002871)
|
Central apnea |
|
|
22790102; 26742931
|
IBIS
|
10 / 7739
|
71
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
22790102; 24890733
|
IBIS
|
197 / 7739
|
72
|
(HPO:0011751)
|
Abnormality of the posterior pituitary |
|
|
22790102
|
IBIS
|
1 / 7739
|
73
|
(HPO:0000587)
|
Abnormality of the optic nerve |
|
|
22790102
|
IBIS
|
5 / 7739
|
74
|
(HPO:0000716)
|
Depression |
|
|
22790102; 26742931; 25173644; 24117146; 22792385; 21564155
|
IBIS
|
99 / 7739
|
75
|
(HPO:0000709)
|
Psychosis |
|
|
22790102; 26742931
|
IBIS
|
61 / 7739
|
76
|
(HPO:0000718)
|
Aggressive behavior |
|
|
22790102; 22792385
|
IBIS
|
109 / 7739
|
77
|
(HPO:0000026)
|
Male hypogonadism |
|
|
22790102
|
IBIS
|
20 / 7739
|
78
|
(HPO:0000140)
|
Abnormality of the menstrual cycle |
|
|
22790102
|
IBIS
|
7 / 7739
|
79
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
22790102; 24890733
|
IBIS
|
56 / 7739
|
80
|
(HPO:0040075)
|
Hypopituitarism |
|
|
22790102; 21564155
|
IBIS
|
32 / 7739
|
81
|
(HPO:0000020)
|
Urinary incontinence |
|
|
22790102; 26742931; 25173644
|
IBIS
|
75 / 7739
|
82
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
22790102; 26742931
|
IBIS
|
56 / 7739
|
83
|
(OMIM)
|
Urinary bladder atony |
|
|
22790102; 26742931
|
IBIS
|
2 / 7739
|
84
|
(HPO:0002578)
|
Gastroparesis |
|
|
22790102; 26742931
|
IBIS
|
11 / 7739
|
85
|
(HPO:0002607)
|
Bowel incontinence |
|
|
22790102
|
IBIS
|
33 / 7739
|
86
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
22790102
|
IBIS
|
89 / 7739
|
87
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
22790102
|
IBIS
|
316 / 7739
|
88
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
22790102
|
IBIS
|
104 / 7739
|
89
|
(HPO:0012210)
|
Abnormal renal morphology |
|
|
25211237; 23429432
|
IBIS
|
18 / 7739
|
90
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
25211237
|
IBIS
|
56 / 7739
|
91
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
25211237
|
IBIS
|
36 / 7739
|
92
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
26742931
|
IBIS
|
27 / 7739
|
93
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
26742931; 22792385
|
IBIS
|
19 / 7739
|
94
|
(HPO:0007994)
|
Peripheral visual field loss |
|
|
26742931; 25173644
|
IBIS
|
13 / 7739
|
95
|
(HPO:0006000)
|
Ureteral obstruction |
|
|
26742931
|
IBIS
|
3 / 7739
|
96
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
26742931
|
IBIS
|
34 / 7739
|
97
|
(HPO:0000009)
|
Functional abnormality of the bladder |
|
|
26742931
|
IBIS
|
2 / 7739
|
98
|
(OMIM)
|
Brain stem atrophy |
|
|
26742931
|
IBIS
|
3 / 7739
|
99
|
(HPO:0002459)
|
Dysautonomia |
|
|
26742931; 21564155
|
IBIS
|
34 / 7739
|
100
|
(HPO:0012378)
|
Fatigue |
|
|
26742931
|
IBIS
|
50 / 7739
|
101
|
(HPO:0100786)
|
Hypersomnia |
|
|
26742931
|
IBIS
|
4 / 7739
|
102
|
(HPO:0002104)
|
Apnea |
|
|
26742931
|
IBIS
|
106 / 7739
|
103
|
(HPO:0002315)
|
Headache |
|
|
26742931
|
IBIS
|
175 / 7739
|
104
|
(HPO:0000739)
|
Anxiety |
|
|
26742931; 24890733; 22792385
|
IBIS
|
67 / 7739
|
105
|
(MedDRA:10033664)
|
Panic attack |
|
|
26742931
|
IBIS
|
2 / 7739
|
106
|
(HPO:0000720)
|
Mood swings |
|
|
26742931
|
IBIS
|
6 / 7739
|
107
|
(HPO:0004370)
|
Abnormality of temperature regulation |
|
|
26742931
|
IBIS
|
58 / 7739
|
108
|
(HPO:0002014)
|
Diarrhea |
|
|
26742931
|
IBIS
|
225 / 7739
|
109
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
26742931
|
IBIS
|
64 / 7739
|
110
|
(HPO:0000135)
|
Hypogonadism |
|
|
26742931; 24890733
|
IBIS
|
89 / 7739
|
111
|
(HPO:0002902)
|
Hyponatremia |
|
|
26742931
|
IBIS
|
37 / 7739
|
112
|
(HPO:0010935)
|
Abnormality of the upper urinary tract |
|
|
26742931
|
IBIS
|
3 / 7739
|
113
|
(HPO:0030329)
|
Retinal thinning |
|
|
26742931
|
IBIS
|
3 / 7739
|
114
|
(HPO:0001757)
|
High-frequency sensorineural hearing impairment |
|
|
26742931; 24890733; 23338790
|
IBIS
|
7 / 7739
|
115
|
(HPO:0001278)
|
Orthostatic hypotension |
|
|
26742931
|
IBIS
|
24 / 7739
|
116
|
(HPO:0000970)
|
Anhidrosis |
|
|
26742931
|
IBIS
|
24 / 7739
|
117
|
(HPO:0000966)
|
Hypohidrosis |
|
|
26742931
|
IBIS
|
41 / 7739
|
118
|
(HPO:0002045)
|
Hypothermia |
|
|
26742931
|
IBIS
|
27 / 7739
|
119
|
(MedDRA:10020741)
|
Hyperpyrexia |
|
|
26742931
|
IBIS
|
2 / 7739
|
120
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
25255707; 24890733
|
IBIS
|
358 / 7739
|
121
|
(HPO:0001561)
|
Polyhydramnios |
|
|
25255707
|
IBIS
|
191 / 7739
|
122
|
(HPO:0003228)
|
Hypernatremia |
|
|
25255707
|
IBIS
|
12 / 7739
|
123
|
(HPO:0000863)
|
Central diabetes insipidus |
|
|
25255707
|
IBIS
|
7 / 7739
|
124
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
25255707
|
IBIS
|
26 / 7739
|
125
|
(HPO:3000030)
|
Abnormality of bony orbit of skull |
|
|
25255707
|
IBIS
|
1 / 7739
|
126
|
(HPO:0011787)
|
Central hypothyroidism |
|
|
25255707
|
IBIS
|
4 / 7739
|
127
|
(HPO:0012758)
|
Neurodevelopmental delay |
|
|
25255707
|
IBIS
|
949 / 7739
|
128
|
(HPO:0000103)
|
Polyuria |
|
|
25255707; 25173644
|
IBIS
|
60 / 7739
|
129
|
(HPO:0000568)
|
Microphthalmia |
|
|
25255707
|
IBIS
|
183 / 7739
|
130
|
(HPO:0007766)
|
Optic disc hypoplasia |
|
|
25255707
|
IBIS
|
7 / 7739
|
131
|
(HPO:0000577)
|
Exotropia |
|
|
25255707; 23373429
|
IBIS
|
43 / 7739
|
132
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
25255707
|
IBIS
|
161 / 7739
|
133
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
25255707
|
IBIS
|
253 / 7739
|
134
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
25173644
|
IBIS
|
94 / 7739
|
135
|
(HPO:0010955)
|
Dilatation of the bladder |
|
|
25173644
|
IBIS
|
2 / 7739
|
136
|
(HPO:0012450)
|
Chronic constipation |
|
|
24890733
|
IBIS
|
10 / 7739
|
137
|
(HPO:0100785)
|
Insomnia |
|
|
24890733
|
IBIS
|
18 / 7739
|
138
|
(MedDRA:10002368)
|
Anger |
|
|
24890733
|
IBIS
|
1 / 7739
|
139
|
(HPO:0000646)
|
Amblyopia |
|
|
24890733
|
IBIS
|
42 / 7739
|
140
|
(HPO:0006879)
|
Pontocerebellar atrophy |
|
|
24890733
|
IBIS
|
6 / 7739
|
141
|
(HPO:0001284)
|
Areflexia |
|
|
24890733
|
IBIS
|
198 / 7739
|
142
|
(HPO:0001328)
|
Specific learning disability |
|
|
24890733; 23373429; 21564155
|
IBIS
|
114 / 7739
|
143
|
(HPO:0000486)
|
Strabismus |
|
|
24117146
|
IBIS
|
576 / 7739
|
144
|
(HPO:0000505)
|
Visual impairment |
|
|
24117146
|
IBIS
|
297 / 7739
|
145
|
(MedDRA:10065604)
|
Suicidal behaviour |
|
|
23595122
|
IBIS
|
3 / 7739
|
146
|
(HPO:0002878)
|
Respiratory failure |
|
|
23429432
|
IBIS
|
57 / 7739
|
147
|
(MedDRA:10003497)
|
Asphyxia |
|
|
23429432
|
IBIS
|
2 / 7739
|
148
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
23373429
|
IBIS
|
29 / 7739
|
149
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
23373429
|
IBIS
|
73 / 7739
|
150
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
23373429
|
IBIS
|
126 / 7739
|
151
|
(HPO:0007686)
|
Abnormal pupillary function |
|
|
23373429
|
IBIS
|
3 / 7739
|
152
|
(OMIM)
|
Microspherophakia |
|
|
23373429
|
IBIS
|
7 / 7739
|
153
|
(HPO:0010693)
|
Pulverulent cataract |
|
|
23373429
|
IBIS
|
6 / 7739
|
154
|
(HPO:0012785)
|
Flexion contracture of finger |
|
|
23373429
|
IBIS
|
3 / 7739
|
155
|
(HPO:0010698)
|
Nuclear pulverulent cataract |
|
|
23373429
|
IBIS
|
1 / 7739
|
156
|
(HPO:0000529)
|
Progressive visual loss |
|
|
23338790
|
IBIS
|
54 / 7739
|
157
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
22792385
|
IBIS
|
32 / 7739
|
158
|
(MedDRA:10058560)
|
Tandem gait test abnormal |
|
|
22792385
|
IBIS
|
1 / 7739
|
159
|
(HPO:0002080)
|
Intention tremor |
|
|
22792385
|
IBIS
|
44 / 7739
|
160
|
(MedDRA:10064478)
|
Conduct disorder |
|
|
22792385
|
IBIS
|
1 / 7739
|
161
|
(HPO:0100710)
|
Impulsivity |
|
|
22792385
|
IBIS
|
16 / 7739
|
162
|
(HPO:0010677)
|
Enuresis nocturna |
|
|
21564155
|
IBIS
|
7 / 7739
|
163
|
(HPO:0000822)
|
Hypertension |
|
|
21564155
|
IBIS
|
224 / 7739
|
164
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
21564155
|
IBIS
|
48 / 7739
|
165
|
(HPO:0000488)
|
Retinopathy |
|
|
21564155
|
IBIS
|
75 / 7739
|