1
|
(HPO:0001510)
|
Growth delay |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
12023989
|
IBIS
|
295 / 7739
|
2
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [IBIS] Very frequent [Orphanet]
|
|
12023989; 13212592; 14065999; 9128805; 26871809; 6999010; 3309859
|
IBIS
|
169 / 7739
|
3
|
(HPO:0000842)
|
Hyperinsulinemia |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
12023989; 293690; 26871809; 6999010; 3309859
|
IBIS
|
39 / 7739
|
4
|
(HPO:0005978)
|
Type II diabetes mellitus |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
9128805; 6999010
|
IBIS
|
68 / 7739
|
5
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
12023989; 9128805; 26871809
|
IBIS
|
358 / 7739
|
6
|
(HPO:0001522)
|
Death in infancy |
Very frequent [IBIS]
|
|
12023989; 13212592; 293690; 9128805; 26871809
|
IBIS
|
275 / 7739
|
7
|
(HPO:0000818)
|
Abnormality of the endocrine system |
Very frequent [IBIS]
|
|
9128805
|
IBIS
|
26 / 7739
|
8
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
13212592; 3309859
|
IBIS
|
281 / 7739
|
9
|
(HPO:0001508)
|
Failure to thrive |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
12023989; 13212592; 14065999; 293690
|
IBIS
|
454 / 7739
|
10
|
(HPO:0100578)
|
Lipoatrophy |
Frequent [IBIS]
Frequent [Orphanet]
|
|
9128805; 26871809
|
IBIS
|
30 / 7739
|
11
|
(HPO:0000998)
|
Hypertrichosis |
Frequent [IBIS]
Frequent [Orphanet]
|
|
13212592; 14065999; 26871809; 277948; 3309859
|
IBIS
|
52 / 7739
|
12
|
(HPO:0001007)
|
Hirsutism |
Frequent [IBIS]
Frequent [Orphanet]
typical [HPO]
|
|
12023989; 293690
|
IBIS
|
91 / 7739
|
13
|
(HPO:0000956)
|
Acanthosis nigricans |
Frequent [IBIS]
|
|
12023989; 9128805; 277948
|
IBIS
|
54 / 7739
|
14
|
(HPO:0004510)
|
Pancreatic islet-cell hyperplasia |
Frequent [IBIS]
|
|
14065999; 293690; 9128805; 3309859
|
IBIS
|
9 / 7739
|
15
|
(HPO:0008897)
|
Postnatal growth retardation |
Frequent [IBIS]
|
|
9128805; 26871809
|
IBIS
|
113 / 7739
|
16
|
(HPO:0001518)
|
Small for gestational age |
Frequent [IBIS]
|
|
12023989; 13212592; 293690; 26871809; 6999010; 277948
|
IBIS
|
107 / 7739
|
17
|
(HPO:0007485)
|
Absence of subcutaneous fat |
Frequent [IBIS]
|
|
12023989; 13212592; 14065999; 293690; 277948; 3309859
|
IBIS
|
6 / 7739
|
18
|
(HPO:0000811)
|
Abnormal external genitalia |
Frequent [IBIS]
|
|
12023989
|
IBIS
|
6 / 7739
|
19
|
(HPO:0011014)
|
Abnormal glucose homeostasis |
Frequent [IBIS]
|
|
12023989; 9128805
|
IBIS
|
5 / 7739
|
20
|
(HPO:0000855)
|
Insulin resistance |
Frequent [IBIS]
|
|
293690; 9128805; 3309859
|
IBIS
|
32 / 7739
|
21
|
(HPO:0003560)
|
Muscular dystrophy |
Very frequent [Orphanet]
|
|
14065999
|
IBIS
|
88 / 7739
|
22
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
14065999
|
IBIS
|
832 / 7739
|
23
|
(HPO:0000358)
|
Posteriorly rotated ears |
Very frequent [Orphanet]
hallmark [HPO]
|
|
3309859
|
IBIS
|
163 / 7739
|
24
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
Very frequent [Orphanet]
|
|
3309859
|
IBIS
|
38 / 7739
|
25
|
(HPO:0000369)
|
Low-set ears |
Very frequent [Orphanet]
hallmark [HPO]
|
|
13212592; 14065999; 293690; 9128805; 26871809
|
IBIS
|
372 / 7739
|
26
|
(HPO:0010313)
|
Breast hypertrophy |
Frequent [Orphanet]
|
|
12023989; 13212592
|
IBIS
|
6 / 7739
|
27
|
(HPO:0002230)
|
Generalized hirsutism |
Frequent [Orphanet]
typical [HPO]
|
|
12023989; 277948
|
IBIS
|
32 / 7739
|
28
|
(HPO:0000023)
|
Inguinal hernia |
Frequent [Orphanet]
|
|
12023989; 277948
|
IBIS
|
181 / 7739
|
29
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
9128805
|
IBIS
|
644 / 7739
|
30
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
3309859
|
IBIS
|
308 / 7739
|
31
|
(HPO:0000952)
|
Jaundice |
Frequent [Orphanet]
|
|
26871809
|
IBIS
|
105 / 7739
|
32
|
(HPO:0001396)
|
Cholestasis |
Frequent [Orphanet]
|
|
12023989
|
IBIS
|
136 / 7739
|
33
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
12023989; 3309859
|
IBIS
|
381 / 7739
|
34
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
277948
|
IBIS
|
206 / 7739
|
35
|
(HPO:0003510)
|
Severe short stature |
Very frequent [Orphanet]
|
|
26871809
|
IBIS
|
90 / 7739
|
36
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
6999010
|
IBIS
|
1232 / 7739
|
37
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
14065999
|
IBIS
|
250 / 7739
|
38
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
12023989
|
IBIS
|
131 / 7739
|
39
|
(HPO:0000057)
|
Clitoromegaly |
|
|
12023989
|
IBIS
|
30 / 7739
|
40
|
(HPO:0000138)
|
Ovarian cyst |
|
|
13212592; 3309859
|
IBIS
|
25 / 7739
|
41
|
(HPO:0000147)
|
Polycystic ovaries |
|
|
12023989
|
IBIS
|
18 / 7739
|
42
|
(HPO:0008675)
|
Enlarged polycystic ovaries |
|
|
12023989
|
IBIS
|
14 / 7739
|
43
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
12023989; 277948
|
IBIS
|
43 / 7739
|
44
|
(HPO:0000274)
|
Small face |
|
|
12023989
|
IBIS
|
18 / 7739
|
45
|
(HPO:0000400)
|
Macrotia |
Very frequent [Orphanet]
|
|
12023989; 13212592; 14065999; 9128805; 26871809
|
IBIS
|
108 / 7739
|
46
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
277948
|
IBIS
|
22 / 7739
|
47
|
(HPO:0001176)
|
Large hands |
|
|
14065999
|
IBIS
|
43 / 7739
|
48
|
(HPO:0001833)
|
Long foot |
|
|
14065999
|
IBIS
|
33 / 7739
|
49
|
(HPO:0002164)
|
Nail dysplasia |
|
|
277948
|
IBIS
|
82 / 7739
|
50
|
(HPO:0003074)
|
Hyperglycemia |
|
|
12023989; 26871809
|
IBIS
|
37 / 7739
|
51
|
(HPO:0003162)
|
Fasting hypoglycemia |
|
|
12023989
|
IBIS
|
8 / 7739
|
52
|
(HPO:0003270)
|
Abdominal distention |
|
|
12023989; 13212592; 26871809; 277948
|
IBIS
|
46 / 7739
|
53
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
12023989; 293690; 26871809; 6999010
|
IBIS
|
492 / 7739
|
54
|
(HPO:0004405)
|
Prominent nipples |
|
|
13212592; 277948; 3309859
|
IBIS
|
2 / 7739
|
55
|
(HPO:0004428)
|
Elfin facies |
|
|
13212592; 14065999; 26871809
|
IBIS
|
5 / 7739
|
56
|
(HPO:0008872)
|
Feeding difficulties in infancy |
Frequent [Orphanet]
|
|
14065999
|
IBIS
|
153 / 7739
|
57
|
(HPO:0011998)
|
Postprandial hyperglycemia |
|
|
12023989
|
IBIS
|
5 / 7739
|
58
|
(HPO:0012471)
|
Thick vermilion border |
|
|
12023989; 13212592; 9128805; 277948
|
IBIS
|
115 / 7739
|
59
|
(HPO:0001072)
|
Thickened skin |
|
|
277948
|
IBIS
|
87 / 7739
|
60
|
(HPO:0001562)
|
Oligohydramnios |
|
|
12023989
|
IBIS
|
75 / 7739
|
61
|
(HPO:0000454)
|
Flared nostrils |
|
|
12023989; 13212592
|
IBIS
|
11 / 7739
|
62
|
(HPO:0100678)
|
Premature skin wrinkling |
|
|
12023989
|
IBIS
|
25 / 7739
|
63
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
12023989
|
IBIS
|
36 / 7739
|
64
|
(HPO:0030148)
|
Heart murmur |
|
|
12023989; 13212592; 3309859
|
IBIS
|
29 / 7739
|
65
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
12023989; 3309859
|
IBIS
|
137 / 7739
|
66
|
(MedDRA:10073260)
|
Ovarian granulosa cell tumour |
|
|
12023989
|
IBIS
|
1 / 7739
|
67
|
(HPO:0001635)
|
Congestive heart failure |
|
|
12023989
|
IBIS
|
232 / 7739
|
68
|
(HPO:0012882)
|
Hyperplastic labia majora |
|
|
12023989; 277948; 277948
|
IBIS
|
2 / 7739
|
69
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
12023989
|
IBIS
|
76 / 7739
|
70
|
(HPO:0001631)
|
Atria septal defect |
|
|
12023989
|
IBIS
|
274 / 7739
|
71
|
(HPO:0002104)
|
Apnea |
|
|
12023989
|
IBIS
|
106 / 7739
|
72
|
(HPO:0001662)
|
Bradycardia |
|
|
12023989; 26871809
|
IBIS
|
41 / 7739
|
73
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
12023989; 293690
|
IBIS
|
32 / 7739
|
74
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
12023989
|
IBIS
|
22 / 7739
|
75
|
(HPO:0001974)
|
Leukocytosis |
|
|
12023989
|
IBIS
|
33 / 7739
|
76
|
(MedDRA:10072081)
|
Bandaemia |
|
|
12023989
|
IBIS
|
1 / 7739
|
77
|
(HPO:0000961)
|
Cyanosis |
|
|
13212592; 14065999
|
IBIS
|
60 / 7739
|
78
|
(HPO:0100838)
|
Recurrent cutaneous abscess formation |
|
|
13212592
|
IBIS
|
15 / 7739
|
79
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
13212592
|
IBIS
|
126 / 7739
|
80
|
(HPO:0000973)
|
Cutis laxa |
|
|
13212592
|
IBIS
|
43 / 7739
|
81
|
(HPO:0000958)
|
Dry skin |
|
|
13212592
|
IBIS
|
152 / 7739
|
82
|
(HPO:0011359)
|
Dry hair |
|
|
13212592
|
IBIS
|
16 / 7739
|
83
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
13212592; 277948; 277948; 3309859
|
IBIS
|
10 / 7739
|
84
|
(HPO:0002097)
|
Emphysema |
|
|
13212592
|
IBIS
|
40 / 7739
|
85
|
(HPO:0011950)
|
Bronchiolitis |
|
|
13212592
|
IBIS
|
8 / 7739
|
86
|
(HPO:0006515)
|
Interstitial pneumonitis |
|
|
13212592
|
IBIS
|
13 / 7739
|
87
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
13212592
|
IBIS
|
21 / 7739
|
88
|
(HPO:0000065)
|
Labial hypertrophy |
|
|
13212592
|
IBIS
|
4 / 7739
|
89
|
(HPO:0000455)
|
Broad nasal tip |
|
|
13212592
|
IBIS
|
67 / 7739
|
90
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
13212592; 14065999
|
IBIS
|
30 / 7739
|
91
|
(HPO:0100879)
|
Enlarged ovaries |
|
|
13212592
|
IBIS
|
1 / 7739
|
92
|
(HPO:0100878)
|
Enlarged uterus |
|
|
13212592
|
IBIS
|
1 / 7739
|
93
|
(HPO:0006476)
|
Abnormality of the pancreatic islet cells |
|
|
13212592
|
IBIS
|
1 / 7739
|
94
|
(HPO:0001257)
|
Spasticity |
|
|
14065999
|
IBIS
|
251 / 7739
|
95
|
(HPO:0001336)
|
Myoclonus |
|
|
14065999
|
IBIS
|
115 / 7739
|
96
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
14065999
|
IBIS
|
48 / 7739
|
97
|
(HPO:0011335)
|
Frontal hirsutism |
|
|
14065999
|
IBIS
|
4 / 7739
|
98
|
(HPO:0009937)
|
Facial hirsutism |
|
|
14065999; 9128805
|
IBIS
|
4 / 7739
|
99
|
(HPO:0011328)
|
Abnormality of fontanelles |
|
|
14065999
|
IBIS
|
1 / 7739
|
100
|
(HPO:0003146)
|
Hypocholesterolemia |
|
|
14065999; 26871809
|
IBIS
|
9 / 7739
|
101
|
(HPO:0003282)
|
Low alkaline phosphatase |
|
|
14065999
|
IBIS
|
7 / 7739
|
102
|
(HPO:0003355)
|
Aminoaciduria |
|
|
14065999; 293690
|
IBIS
|
65 / 7739
|
103
|
(HPO:0002570)
|
Steatorrhea |
|
|
14065999
|
IBIS
|
31 / 7739
|
104
|
(HPO:0001339)
|
Lissencephaly |
|
|
14065999
|
IBIS
|
30 / 7739
|
105
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
14065999
|
IBIS
|
13 / 7739
|
106
|
(HPO:0005990)
|
Thyroid hypoplasia |
|
|
14065999
|
IBIS
|
21 / 7739
|
107
|
(HPO:0006270)
|
Hypoplastic spleen |
|
|
14065999
|
IBIS
|
4 / 7739
|
108
|
(HPO:0012094)
|
Abnormal pancreas size |
|
|
14065999
|
IBIS
|
5 / 7739
|
109
|
(HPO:0002240)
|
Hepatomegaly |
|
|
14065999
|
IBIS
|
467 / 7739
|
110
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
293690
|
IBIS
|
27 / 7739
|
111
|
(HPO:0002090)
|
Pneumonia |
|
|
293690
|
IBIS
|
59 / 7739
|
112
|
(HPO:0001699)
|
Sudden death |
|
|
293690
|
IBIS
|
34 / 7739
|
113
|
(HPO:0001649)
|
Tachycardia |
|
|
293690; 26871809
|
IBIS
|
53 / 7739
|
114
|
(HPO:0001640)
|
Cardiomegaly |
|
|
293690
|
IBIS
|
81 / 7739
|
115
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
293690
|
IBIS
|
228 / 7739
|
116
|
(HPO:0003231)
|
Hypertyrosinemia |
|
|
293690
|
IBIS
|
8 / 7739
|
117
|
(HPO:0000093)
|
Proteinuria |
|
|
293690
|
IBIS
|
169 / 7739
|
118
|
(HPO:0009064)
|
Generalized lipodystrophy |
|
|
9128805
|
IBIS
|
17 / 7739
|
119
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
9128805
|
IBIS
|
13 / 7739
|
120
|
(HPO:0001090)
|
Large eyes |
|
|
9128805
|
IBIS
|
20 / 7739
|
121
|
(HPO:0008846)
|
Severe intrauterine growth retardation |
|
|
26871809; 3309859
|
IBIS
|
5 / 7739
|
122
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
26871809
|
IBIS
|
147 / 7739
|
123
|
(MedDRA:10022478)
|
Insulin C-peptide increased |
|
|
26871809
|
IBIS
|
2 / 7739
|
124
|
(HPO:0001882)
|
Leukopenia |
|
|
26871809
|
IBIS
|
51 / 7739
|
125
|
(HPO:0001903)
|
Anemia |
|
|
26871809
|
IBIS
|
289 / 7739
|
126
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
26871809
|
IBIS
|
22 / 7739
|
127
|
(HPO:0012153)
|
Hypotriglyceridemia |
|
|
26871809
|
IBIS
|
4 / 7739
|
128
|
(HPO:0002900)
|
Hypokalemia |
|
|
26871809
|
IBIS
|
45 / 7739
|
129
|
(HPO:0001905)
|
Congenital thrombocytopenia |
|
|
26871809
|
IBIS
|
4 / 7739
|
130
|
(MedDRA:10048709)
|
Urosepsis |
|
|
26871809
|
IBIS
|
3 / 7739
|
131
|
(HPO:0000126)
|
Hydronephrosis |
|
|
26871809
|
IBIS
|
119 / 7739
|
132
|
(HPO:0000034)
|
Hydrocele testis |
|
|
26871809
|
IBIS
|
18 / 7739
|
133
|
(HPO:0003247)
|
Overgrowth of external genitalia |
|
|
26871809
|
IBIS
|
3 / 7739
|
134
|
(HPO:0000980)
|
Pallor |
|
|
26871809
|
IBIS
|
52 / 7739
|
135
|
(HPO:0001945)
|
Fever |
|
|
26871809
|
IBIS
|
218 / 7739
|
136
|
(HPO:0100806)
|
Sepsis |
|
|
26871809
|
IBIS
|
48 / 7739
|
137
|
(HPO:0001695)
|
Cardiac arrest |
|
|
26871809
|
IBIS
|
87 / 7739
|
138
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
6999010
|
IBIS
|
64 / 7739
|
139
|
(HPO:0000103)
|
Polyuria |
|
|
277948
|
IBIS
|
60 / 7739
|
140
|
(HPO:0001959)
|
Polydipsia |
|
|
277948
|
IBIS
|
43 / 7739
|
141
|
(HPO:0000280)
|
Coarse facial features |
|
|
277948
|
IBIS
|
189 / 7739
|
142
|
(HPO:0000606)
|
Abnormality of the periorbital region |
|
|
3309859
|
IBIS
|
96 / 7739
|
143
|
(HPO:0008559)
|
Hypoplastic superior helix |
|
|
3309859
|
IBIS
|
6 / 7739
|
144
|
(HPO:0000463)
|
Anteverted nares |
|
|
3309859
|
IBIS
|
305 / 7739
|
145
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
3309859
|
IBIS
|
112 / 7739
|
146
|
(HPO:0005326)
|
Hypoplastic philtrum |
|
|
3309859
|
IBIS
|
4 / 7739
|
147
|
(HPO:0003799)
|
Marked delay in bone age |
|
|
8105179
|
IBIS
|
5 / 7739
|
148
|
(HPO:0000845)
|
Growth hormone excess |
|
|
8105179
|
IBIS
|
18 / 7739
|