1
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
14757854; 28815877; 28496510; 23385855; 23385855
|
IBIS
|
467 / 7739
|
2
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
3
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
14757854; 28815877; 23385855
|
IBIS
|
358 / 7739
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
14757854; 28496510
|
IBIS
|
1232 / 7739
|
5
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
14757854
|
IBIS
|
126 / 7739
|
6
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
7
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
12754710
|
IBIS
|
298 / 7739
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
12754710
|
IBIS
|
290 / 7739
|
9
|
(HPO:0000171)
|
Microglossia |
|
|
|
|
27 / 7739
|
10
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
|
|
14757854; 12754710; 23385855
|
IBIS
|
644 / 7739
|
12
|
(HPO:0000325)
|
Triangular face |
|
|
14757854; 28815877; 28496510; 23385855
|
IBIS
|
91 / 7739
|
13
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
14
|
(HPO:0000486)
|
Strabismus |
|
|
28496510
|
IBIS
|
576 / 7739
|
15
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
16
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
14757854
|
IBIS
|
990 / 7739
|
18
|
(HPO:0001260)
|
Dysarthria |
|
|
28496510
|
IBIS
|
329 / 7739
|
19
|
(HPO:0001620)
|
High pitched voice |
|
|
14757854; 28815877; 12754710; 23385855
|
IBIS
|
32 / 7739
|
20
|
(HPO:0001621)
|
Weak voice |
|
|
|
|
5 / 7739
|
21
|
(HPO:0001635)
|
Congestive heart failure |
|
|
14757854; 28815877; 15108285
|
IBIS
|
232 / 7739
|
22
|
(HPO:0001685)
|
Myocardial fibrosis |
|
|
|
|
30 / 7739
|
23
|
(HPO:0002007)
|
Frontal bossing |
|
|
14757854
|
IBIS
|
366 / 7739
|
24
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
25
|
(HPO:0002667)
|
Nephroblastoma |
|
|
14757854; 15108285
|
IBIS
|
30 / 7739
|
26
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
14757854; 28496510; 23385855
|
IBIS
|
15 / 7739
|
27
|
(HPO:0002688)
|
Absent frontal sinuses |
|
|
|
|
12 / 7739
|
28
|
(HPO:0002738)
|
Hypoplastic frontal sinuses |
|
|
|
|
6 / 7739
|
29
|
(HPO:0003764)
|
Nevus |
|
|
|
|
17 / 7739
|
30
|
(HPO:0005132)
|
Pericardial constriction |
|
|
14757854; 28815877; 15108285; 23385855
|
IBIS
|
1 / 7739
|
31
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
14757854; 28496510
|
IBIS
|
381 / 7739
|
32
|
(HPO:0007659)
|
Decreased retinal pigmentation with dispersion |
|
|
14757854
|
IBIS
|
1 / 7739
|
33
|
(HPO:0007757)
|
Hypoplasia of choroid |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Short stature, prenatal onset |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Adult male height 136-161 cm |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Adult female height 126-151 cm |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Birth length 1.5-2 S.D. below mean |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Birth weight 1.5-2 S.D. below mean |
|
|
|
|
1 / 7739
|
39
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
40
|
(OMIM)
|
Yellowish dots in fundi |
|
|
14757854; 28815877
|
IBIS
|
1 / 7739
|
41
|
(OMIM)
|
Deep, broad nasal bridge |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Relatively small tongue |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Hypodontia of second bicuspid |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Globular shaped heart on x-ray |
|
|
|
|
2 / 7739
|
45
|
(OMIM)
|
Elevated venous pressure |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Normal bone age |
|
|
|
|
4 / 7739
|
47
|
(OMIM)
|
Absent or small frontal sinus |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Absent or small sphenoidal sinus |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Fibrous dysplasia (especially tibia) |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Cutaneous nevi flammei (limbs) |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
52
|
(OMIM)
|
Weak, high-pitched voice |
|
|
|
|
1 / 7739
|
53
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
54
|
(HPO:0011968)
|
Feeding difficulties |
|
|
14757854
|
IBIS
|
240 / 7739
|
55
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
14757854
|
IBIS
|
28 / 7739
|
56
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
14757854; 28815877; 12754710; 23385855
|
IBIS
|
169 / 7739
|
57
|
(HPO:0030799)
|
Scaphocephaly |
|
|
14757854
|
IBIS
|
2 / 7739
|
58
|
(HPO:0000348)
|
High forehead |
|
|
14757854
|
IBIS
|
157 / 7739
|
59
|
(HPO:0000337)
|
Broad forehead |
|
|
14757854; 12754710
|
IBIS
|
116 / 7739
|
60
|
(HPO:0003100)
|
Slender long bone |
|
|
14757854; 28496510; 23385855
|
IBIS
|
45 / 7739
|
61
|
(HPO:0001052)
|
Nevus flammeus |
|
|
14757854
|
IBIS
|
88 / 7739
|
62
|
(HPO:0011314)
|
Abnormality of long bone morphology |
|
|
14757854
|
IBIS
|
3 / 7739
|
63
|
(HPO:0004488)
|
Macrocephaly at birth |
|
|
14757854
|
IBIS
|
2 / 7739
|
64
|
(HPO:0000239)
|
Large fontanelles |
|
|
14757854
|
IBIS
|
135 / 7739
|
65
|
(HPO:0002896)
|
Neoplasm of the liver |
|
|
14757854
|
IBIS
|
17 / 7739
|
66
|
(HPO:0000790)
|
Hematuria |
|
|
14757854
|
IBIS
|
106 / 7739
|
67
|
(HPO:0000883)
|
Thin ribs |
|
|
14757854
|
IBIS
|
31 / 7739
|
68
|
(HPO:0000774)
|
Narrow chest |
|
|
14757854; 28496510
|
IBIS
|
167 / 7739
|
69
|
(HPO:0001640)
|
Cardiomegaly |
|
|
14757854; 23385855
|
IBIS
|
81 / 7739
|
70
|
(HPO:0001631)
|
Atria septal defect |
|
|
14757854
|
IBIS
|
274 / 7739
|
71
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
14757854
|
IBIS
|
316 / 7739
|
72
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
14757854
|
IBIS
|
228 / 7739
|
73
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
28815877; 12754710; 23385855
|
IBIS
|
113 / 7739
|
74
|
(HPO:0011220)
|
Prominent forehead |
|
|
28815877; 28496510; 23385855
|
IBIS
|
137 / 7739
|
75
|
(HPO:0000369)
|
Low-set ears |
|
|
28815877; 12754710
|
IBIS
|
372 / 7739
|
76
|
(HPO:0000218)
|
High palate |
|
|
28815877; 12754710
|
IBIS
|
356 / 7739
|
77
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
28815877
|
IBIS
|
288 / 7739
|
78
|
(HPO:0002816)
|
Genu recurvatum |
|
|
28815877
|
IBIS
|
30 / 7739
|
79
|
(HPO:0008081)
|
Valgus foot deformity |
|
|
28815877
|
IBIS
|
3 / 7739
|
80
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
28815877; 28496510
|
IBIS
|
61 / 7739
|
81
|
(HPO:0000540)
|
Hypermetropia |
|
|
28815877
|
IBIS
|
99 / 7739
|
82
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
28815877
|
IBIS
|
94 / 7739
|
83
|
(HPO:0005213)
|
Pancreatic calcification |
|
|
28815877
|
IBIS
|
3 / 7739
|
84
|
(MedDRA:10034229)
|
Peliosis hepatis |
|
|
28815877
|
IBIS
|
1 / 7739
|
85
|
(HPO:0000347)
|
Micrognathia |
|
|
28815877
|
IBIS
|
426 / 7739
|
86
|
(HPO:0000767)
|
Pectus excavatum |
|
|
28815877
|
IBIS
|
244 / 7739
|
87
|
(HPO:0001508)
|
Failure to thrive |
|
|
28815877; 23385855
|
IBIS
|
454 / 7739
|
88
|
(HPO:0001711)
|
Abnormality of the left ventricle |
|
|
28815877
|
IBIS
|
22 / 7739
|
89
|
(HPO:0002992)
|
Abnormality of the tibia |
|
|
28815877; 12754710
|
IBIS
|
51 / 7739
|
90
|
(MedDRA:10057614)
|
Pericardial calcification |
|
|
15108285
|
IBIS
|
1 / 7739
|
91
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
15108285
|
IBIS
|
22 / 7739
|
92
|
(HPO:0000083)
|
Renal insufficiency |
|
|
15108285
|
IBIS
|
232 / 7739
|
93
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
28496510
|
IBIS
|
29 / 7739
|
94
|
(HPO:0002094)
|
Dyspnea |
|
|
28496510
|
IBIS
|
132 / 7739
|
95
|
(HPO:0100749)
|
Chest pain |
|
|
28496510
|
IBIS
|
92 / 7739
|
96
|
(HPO:0012398)
|
Peripheral edema |
|
|
28496510
|
IBIS
|
12 / 7739
|
97
|
(HPO:0003270)
|
Abdominal distention |
|
|
28496510
|
IBIS
|
46 / 7739
|
98
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
28496510
|
IBIS
|
141 / 7739
|
99
|
(HPO:0000331)
|
Short chin |
|
|
28496510; 12754710
|
IBIS
|
33 / 7739
|
100
|
(HPO:0000158)
|
Macroglossia |
|
|
28496510
|
IBIS
|
119 / 7739
|
101
|
(HPO:0001518)
|
Small for gestational age |
|
|
28496510
|
IBIS
|
107 / 7739
|
102
|
(HPO:0040195)
|
Decreased head circumference |
|
|
28496510
|
IBIS
|
1 / 7739
|
103
|
(HPO:0001263)
|
Global developmental delay |
|
|
28496510
|
IBIS
|
853 / 7739
|
104
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
28496510
|
IBIS
|
64 / 7739
|
105
|
(HPO:0002650)
|
Scoliosis |
|
|
28496510
|
IBIS
|
705 / 7739
|
106
|
(HPO:0001698)
|
Pericardial effusion |
|
|
28496510
|
IBIS
|
20 / 7739
|
107
|
(HPO:0002202)
|
Pleural effusion |
|
|
28496510; 23385855
|
IBIS
|
22 / 7739
|
108
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
28496510
|
IBIS
|
35 / 7739
|
109
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
28496510
|
IBIS
|
50 / 7739
|
110
|
(HPO:0030807)
|
Abnormal nail growth |
|
|
28496510
|
IBIS
|
1 / 7739
|
111
|
(HPO:0008724)
|
Hypoplasia of the ovary |
|
|
28496510
|
IBIS
|
6 / 7739
|
112
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
28496510
|
IBIS
|
21 / 7739
|
113
|
(HPO:0001541)
|
Ascites |
|
|
28496510
|
IBIS
|
94 / 7739
|
114
|
(HPO:0001249)
|
Intellectual disability |
|
|
12754710
|
IBIS
|
1089 / 7739
|
115
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
12754710
|
IBIS
|
77 / 7739
|
116
|
(HPO:0001513)
|
Obesity |
|
|
12754710
|
IBIS
|
172 / 7739
|
117
|
(HPO:0000956)
|
Acanthosis nigricans |
|
|
12754710
|
IBIS
|
54 / 7739
|
118
|
(HPO:0001028)
|
Hemangioma |
|
|
12754710
|
IBIS
|
23 / 7739
|
119
|
(HPO:0000831)
|
Insulin-resistant diabetes mellitus |
|
|
12754710
|
IBIS
|
22 / 7739
|
120
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
12754710
|
IBIS
|
78 / 7739
|
121
|
(HPO:0001394)
|
Cirrhosis |
|
|
12754710
|
IBIS
|
102 / 7739
|
122
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
12754710
|
IBIS
|
51 / 7739
|
123
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
12754710
|
IBIS
|
192 / 7739
|
124
|
(HPO:0001103)
|
Abnormality of the macula |
|
|
12754710
|
IBIS
|
7 / 7739
|
125
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
12754710
|
IBIS
|
56 / 7739
|
126
|
(HPO:0000175)
|
Cleft palate |
|
|
23385855
|
IBIS
|
349 / 7739
|
127
|
(HPO:0000479)
|
Abnormality of the retina |
|
|
23385855
|
IBIS
|
74 / 7739
|
128
|
(HPO:0002243)
|
Protein-losing enteropathy |
|
|
23385855
|
IBIS
|
8 / 7739
|
129
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
23385855
|
IBIS
|
51 / 7739
|
130
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
23385855
|
IBIS
|
27 / 7739
|
131
|
(HPO:0030718)
|
Right atrial enlargement |
|
|
23385855
|
IBIS
|
1 / 7739
|
132
|
(HPO:0005133)
|
Right ventricular dilatation |
|
|
23385855
|
IBIS
|
14 / 7739
|
133
|
(HPO:0006673)
|
Reduced systolic function |
|
|
23385855
|
IBIS
|
11 / 7739
|
134
|
(HPO:0001697)
|
Abnormality of the pericardium |
|
|
23385855
|
IBIS
|
52 / 7739
|
135
|
(HPO:0001708)
|
Right ventricular failure |
|
|
23385855
|
IBIS
|
11 / 7739
|
136
|
(HPO:0001919)
|
Acute kidney injury |
|
|
23385855
|
IBIS
|
21 / 7739
|