|
1
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [IBIS]
Very frequent [Orphanet]
|
100% (n=60)
|
18245432
|
IBIS
|
290 / 7739
|
|
2
|
(HPO:0000307)
|
Pointed chin |
Very frequent [IBIS]
Very frequent [Orphanet]
20/30 [HPO:probinson]
|
100% (n=60)
|
18245432
|
IBIS
|
45 / 7739
|
|
3
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [IBIS]
Very frequent [Orphanet]
24/30 [HPO:curators]
|
100% (n=60)
|
18245432
|
IBIS
|
131 / 7739
|
|
4
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [IBIS]
Very frequent [Orphanet]
|
100% (n=60)
|
18245432
|
IBIS
|
221 / 7739
|
|
5
|
(HPO:0000343)
|
Long philtrum |
Very frequent [IBIS]
Very frequent [Orphanet]
|
100% (n=60)
|
18245432
|
IBIS
|
262 / 7739
|
|
6
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [IBIS]
Very frequent [Orphanet]
|
100% (n=34)
|
18245432
|
IBIS
|
188 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [IBIS]
|
100% (n=52)
|
18245432
|
IBIS
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [IBIS]
30/30 [HPO:curators]
|
100% (n=60)
|
18245432
|
IBIS
|
853 / 7739
|
|
9
|
(HPO:0011228)
|
Horizontal eyebrow |
Very frequent [IBIS]
|
100% (n=60)
|
18245432
|
IBIS
|
2 / 7739
|
|
10
|
(HPO:0002474)
|
Expressive language delay |
Very frequent [IBIS]
|
100% (n=60)
|
18245432
|
IBIS
|
8 / 7739
|
|
11
|
(HPO:0000750)
|
Delayed speech and language development |
Very frequent [IBIS]
|
98% (n=57)
|
17918734
|
IBIS
|
197 / 7739
|
|
12
|
(HPO:0001518)
|
Small for gestational age |
Very frequent [IBIS]
|
96% (n=60)
|
18245432
|
IBIS
|
107 / 7739
|
|
13
|
(HPO:0001319)
|
Neonatal hypotonia |
Very frequent [IBIS]
|
95% (n=60)
|
18245432
|
IBIS
|
101 / 7739
|
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [IBIS]
Very frequent [Orphanet]
26/30 [HPO:probinson]
|
92% (n=65)
|
17918734
|
IBIS
|
990 / 7739
|
|
15
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
17918734
|
IBIS
|
308 / 7739
|
|
16
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
26345236
|
IBIS
|
98 / 7739
|
|
17
|
(HPO:0003812)
|
Phenotypic variability |
Very frequent [IBIS]
|
|
26345236
|
IBIS
|
129 / 7739
|
|
18
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [IBIS]
|
|
26345236
|
IBIS
|
169 / 7739
|
|
19
|
(HPO:0012443)
|
Abnormality of brain morphology |
Frequent [IBIS]
|
88% (n=49)
|
18245432
|
IBIS
|
45 / 7739
|
|
20
|
(HPO:0009237)
|
Short 5th finger |
Frequent [IBIS]
26/30 [HPO:curators]
|
87% (n=30)
|
12687501
|
IBIS
|
16 / 7739
|
|
21
|
(HPO:0000260)
|
Wide anterior fontanel |
Frequent [IBIS]
22/26 [HPO:probinson]
|
85% (n=26)
|
12687501
|
IBIS
|
55 / 7739
|
|
22
|
(HPO:0000365)
|
Hearing impairment |
Frequent [IBIS]
|
82% (n=28)
|
12687501
|
IBIS
|
539 / 7739
|
|
23
|
(HPO:0001773)
|
Short foot |
Frequent [IBIS]
|
80% (n=60)
|
18245432
|
IBIS
|
86 / 7739
|
|
24
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
Frequent [IBIS]
|
77% (n=39)
|
18245432
|
IBIS
|
23 / 7739
|
|
25
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [IBIS]
Frequent [Orphanet]
23/30 [HPO:curators]
|
77% (n=30)
|
12687501
|
IBIS
|
381 / 7739
|
|
26
|
(HPO:0011968)
|
Feeding difficulties |
Frequent [IBIS]
|
77% (47)
|
17918734
|
IBIS
|
240 / 7739
|
|
27
|
(HPO:0002015)
|
Dysphagia |
Frequent [IBIS]
Frequent [Orphanet]
|
72% (n=29)
|
12687501
|
IBIS
|
301 / 7739
|
|
28
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [IBIS]
|
71% (n=48)
|
18245432
|
IBIS
|
355 / 7739
|
|
29
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [IBIS]
Frequent [Orphanet]
20/30 [HPO:curators]
|
67% (n=30)
|
12687501
|
IBIS
|
85 / 7739
|
|
30
|
(HPO:0000540)
|
Hypermetropia |
Frequent [IBIS]
Frequent [Orphanet]
20/30 [HPO:curators]
|
67% (n=30)
|
12687501
|
IBIS
|
99 / 7739
|
|
31
|
(HPO:0002019)
|
Constipation |
Frequent [IBIS]
Frequent [Orphanet]
|
65% (n=43)
|
17918734
|
IBIS
|
194 / 7739
|
|
32
|
(HPO:0008872)
|
Feeding difficulties in infancy |
Frequent [IBIS]
|
63% (n=30)
|
12687501
|
IBIS
|
153 / 7739
|
|
33
|
(HPO:0000248)
|
Brachycephaly |
Frequent [IBIS]
Frequent [Orphanet]
18/30 [HPO:probinson]
|
60% (n=30)
|
12687501
|
IBIS
|
222 / 7739
|
|
34
|
(HPO:0000252)
|
Microcephaly |
Frequent [IBIS]
18/30 [HPO:probinson]
|
60% (n=30)
|
12687501
|
IBIS
|
832 / 7739
|
|
35
|
(HPO:0030084)
|
Clinodactyly |
Frequent [IBIS]
|
60% (n=45)
|
17918734
|
IBIS
|
90 / 7739
|
|
36
|
(HPO:0002020)
|
Gastroesophageal reflux |
Frequent [IBIS]
|
56% (n=41)
|
17918734
|
IBIS
|
101 / 7739
|
|
37
|
(HPO:0100716)
|
Self-injurious behavior |
Frequent [IBIS]
Frequent [Orphanet]
|
55% (n=38)
|
17918734
|
IBIS
|
43 / 7739
|
|
38
|
(HPO:0000391)
|
Thickened helices |
Frequent [IBIS]
16/30 [HPO:curators]
|
53% (n=30)
|
12687501
|
IBIS
|
8 / 7739
|
|
39
|
(HPO:0010722)
|
Asymmetry of the ears |
Frequent [IBIS]
16/30 [HPO:curators]
|
53% (n=30)
|
12687501
|
IBIS
|
3 / 7739
|
|
40
|
(HPO:0000735)
|
Impaired social interactions |
Frequent [IBIS]
|
52% (n=60)
|
18245432
|
IBIS
|
20 / 7739
|
|
41
|
(HPO:0000504)
|
Abnormality of vision |
Frequent [IBIS]
|
52% (n=44)
|
18245432
|
IBIS
|
22 / 7739
|
|
42
|
(HPO:0000286)
|
Epicanthus |
Frequent [IBIS]
Frequent [Orphanet]
|
50% (n=60)
|
18245432
|
IBIS
|
371 / 7739
|
|
43
|
(HPO:0009553)
|
Abnormality of the hairline |
Frequent [IBIS]
|
48% (n=42)
|
17918734
|
IBIS
|
30 / 7739
|
|
44
|
(HPO:0011097)
|
Epileptic spasms |
Frequent [IBIS]
|
48% (n=31)
|
12687501
|
IBIS
|
45 / 7739
|
|
45
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [IBIS]
Frequent [Orphanet]
|
47% (n=60)
|
18245432
|
IBIS
|
212 / 7739
|
|
46
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [IBIS]
Occasional [Orphanet]
|
46% (n=35)
|
17918734
|
IBIS
|
164 / 7739
|
|
47
|
(HPO:0001250)
|
Seizures |
Frequent [IBIS]
Frequent [Orphanet]
15/31 [HPO:curators]
|
44% (n=60)
|
18245432
|
IBIS
|
1245 / 7739
|
|
48
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Frequent [IBIS]
|
41% (n=32)
|
18245432
|
IBIS
|
114 / 7739
|
|
49
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [IBIS]
Frequent [Orphanet]
12/30 [HPO:curators]
|
40% (n=30)
|
12687501
|
IBIS
|
288 / 7739
|
|
50
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
Frequent [IBIS]
|
40% (n=60)
|
18245432
|
IBIS
|
38 / 7739
|
|
51
|
(HPO:0000316)
|
Hypertelorism |
Frequent [IBIS]
|
38% (n=40)
|
17918734
|
IBIS
|
644 / 7739
|
|
52
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [IBIS]
Very frequent [Orphanet]
|
37% (n=49)
|
18245432
|
IBIS
|
253 / 7739
|
|
53
|
(HPO:0000733)
|
Stereotypy |
Frequent [IBIS]
Frequent [Orphanet]
|
34% (n=60)
|
18245432
|
IBIS
|
58 / 7739
|
|
54
|
(HPO:0200134)
|
Epileptic encephalopathy |
Frequent [IBIS]
|
31% (n=32)
|
17918734
|
IBIS
|
42 / 7739
|
|
55
|
(HPO:0000358)
|
Posteriorly rotated ears |
Frequent [IBIS]
7/30 [HPO:curators]
|
|
12687501; 26345236
|
IBIS
|
163 / 7739
|
|
56
|
(HPO:0000239)
|
Large fontanelles |
Frequent [IBIS]
Frequent [Orphanet]
|
|
12687501
|
IBIS
|
135 / 7739
|
|
57
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [IBIS]
Frequent [Orphanet]
|
|
18245432
|
IBIS
|
126 / 7739
|
|
58
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
18245432
|
IBIS
|
212 / 7739
|
|
59
|
(HPO:0001510)
|
Growth delay |
Frequent [IBIS]
|
|
23451234
|
IBIS
|
295 / 7739
|
|
60
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
26345236
|
IBIS
|
39 / 7739
|
|
61
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
26875550
|
IBIS
|
394 / 7739
|
|
62
|
(HPO:0000505)
|
Visual impairment |
Frequent [IBIS]
|
|
26875550
|
IBIS
|
297 / 7739
|
|
63
|
(HPO:0001156)
|
Brachydactyly syndrome |
Frequent [IBIS]
|
|
18245432
|
IBIS
|
180 / 7739
|
|
64
|
(HPO:0012385)
|
Camptodactyly |
Frequent [IBIS]
|
|
18245432
|
IBIS
|
113 / 7739
|
|
65
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [IBIS]
Occasional [Orphanet]
|
31% (n=59)
|
17918734
|
IBIS
|
192 / 7739
|
|
66
|
(HPO:0000486)
|
Strabismus |
Occasional [IBIS]
Frequent [Orphanet]
9/30 [HPO:probinson]
|
30% (n=30)
|
12687501
|
IBIS
|
576 / 7739
|
|
67
|
(OMIM)
|
Visual inattentiveness |
Occasional [IBIS]
|
30% (n=30)
|
12687501
|
IBIS
|
1 / 7739
|
|
68
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [IBIS]
Occasional [Orphanet]
|
28% (n=32)
|
18245432
|
IBIS
|
524 / 7739
|
|
69
|
(HPO:0001631)
|
Atria septal defect |
Occasional [IBIS]
Occasional [Orphanet] [IBIS]
|
28% (n=48)
|
18245432
|
IBIS
|
274 / 7739
|
|
70
|
(HPO:0002352)
|
Leukoencephalopathy |
Occasional [IBIS]
|
28% (n=50)
|
17918734
|
IBIS
|
32 / 7739
|
|
71
|
(HPO:0011024)
|
Abnormality of the gastrointestinal tract |
Occasional [IBIS]
|
28% (n=18)
|
18245432
|
IBIS
|
5 / 7739
|
|
72
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [IBIS]
|
27% (n=44)
|
17918734
|
IBIS
|
185 / 7739
|
|
73
|
(HPO:0045025)
|
Narrow palpebral fissure |
Occasional [IBIS]
|
27% (n=37)
|
17918734
|
IBIS
|
8 / 7739
|
|
74
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [IBIS]
|
26% (n=43)
|
17918734
|
IBIS
|
328 / 7739
|
|
75
|
(HPO:0012469)
|
Infantile spasms |
Occasional [IBIS]
|
25% (n=60)
|
18245432
|
IBIS
|
18 / 7739
|
|
76
|
(HPO:0000811)
|
Abnormal external genitalia |
Occasional [IBIS]
|
25% (n=60)
|
18245432
|
IBIS
|
6 / 7739
|
|
77
|
(HPO:0001655)
|
Patent foramen ovale |
Occasional [IBIS]
|
24% (n=59)
|
17918734
|
IBIS
|
31 / 7739
|
|
78
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [IBIS]
4/30 [HPO:probinson]
|
23% (n=48)
|
18245432
|
IBIS
|
316 / 7739
|
|
79
|
(HPO:0012817)
|
Noncompaction cardiomyopathy |
Occasional [IBIS]
|
23% (n=48)
|
18245432
|
IBIS
|
2 / 7739
|
|
80
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [IBIS]
|
22% (n=32)
|
18245432
|
IBIS
|
250 / 7739
|
|
81
|
(HPO:0012211)
|
Abnormal renal physiology |
Occasional [IBIS]
|
22% (n=18)
|
18245432
|
IBIS
|
23 / 7739
|
|
82
|
(HPO:0012704)
|
Widened subarachnoid space |
Occasional [IBIS]
|
22% (n=49)
|
18245432
|
IBIS
|
3 / 7739
|
|
83
|
(HPO:0000664)
|
Synophrys |
Occasional [IBIS]
|
21% (n=28)
|
17918734
|
IBIS
|
112 / 7739
|
|
84
|
(HPO:0001653)
|
Mitral regurgitation |
Occasional [IBIS]
|
21% (n=48)
|
18245432
|
IBIS
|
64 / 7739
|
|
85
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [IBIS]
Very frequent [Orphanet]
|
20% (n=49)
|
18245432
|
IBIS
|
187 / 7739
|
|
86
|
(HPO:0000047)
|
Hypospadias |
Occasional [IBIS]
Occasional [Orphanet]
|
20% (n=60)
|
18245432
|
IBIS
|
250 / 7739
|
|
87
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [IBIS]
Occasional [Orphanet]
|
20% (n=30)
|
12687501
|
IBIS
|
141 / 7739
|
|
88
|
(HPO:0002126)
|
Polymicrogyria |
Occasional [IBIS]
|
20% (n=50)
|
17918734
|
IBIS
|
64 / 7739
|
|
89
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [IBIS]
Occasional [Orphanet]
5/30 [HPO:probinson]
|
17% (n=30)
|
12687501
|
IBIS
|
228 / 7739
|
|
90
|
(HPO:0000545)
|
Myopia |
Occasional [IBIS]
5/30 [HPO:probinson]
|
17% (n=30)
|
12687501
|
IBIS
|
286 / 7739
|
|
91
|
(HPO:0002650)
|
Scoliosis |
Occasional [IBIS]
Occasional [Orphanet]
|
16% (n=32)
|
18245432
|
IBIS
|
705 / 7739
|
|
92
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
Occasional [IBIS]
|
16% (n=49)
|
18245432
|
IBIS
|
73 / 7739
|
|
93
|
(HPO:0000851)
|
Congenital hypothyroidism |
Occasional [IBIS]
|
15% (n=20)
|
18245432
|
IBIS
|
16 / 7739
|
|
94
|
(HPO:0000960)
|
Sacral dimple |
Occasional [IBIS]
|
15% (n=60)
|
18245432
|
IBIS
|
29 / 7739
|
|
95
|
(HPO:0002591)
|
Polyphagia |
Occasional [IBIS]
Occasional [Orphanet]
|
13% (n=60)
|
18245432
|
IBIS
|
25 / 7739
|
|
96
|
(HPO:0000639)
|
Nystagmus |
Occasional [IBIS]
Occasional [Orphanet]
4/30 [HPO:curators]
|
13% (n=30)
|
12687501
|
IBIS
|
555 / 7739
|
|
97
|
(HPO:0000046)
|
Scrotal hypoplasia |
Occasional [IBIS]
|
13% (n=60)
|
18245432
|
IBIS
|
54 / 7739
|
|
98
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
Occasional [IBIS]
|
12% (n=49)
|
18245432
|
IBIS
|
20 / 7739
|
|
99
|
(HPO:0000064)
|
Hypoplastic labia minora |
Occasional [IBIS]
|
12% (n=60)
|
18245432
|
IBIS
|
7 / 7739
|
|
100
|
(HPO:0002616)
|
Aortic root dilatation |
Occasional [IBIS]
3/30 [HPO:curators]
|
10% (n=30)
|
12687501
|
IBIS
|
27 / 7739
|
|
101
|
(HPO:0012444)
|
Brain atrophy |
Occasional [IBIS]
|
10% (n=49)
|
18245432
|
IBIS
|
24 / 7739
|
|
102
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [IBIS]
Occasional [Orphanet]
|
8% (n=48)
|
18245432
|
IBIS
|
104 / 7739
|
|
103
|
(HPO:0002188)
|
Delayed CNS myelination |
Occasional [IBIS]
|
8% (n=49)
|
18245432
|
IBIS
|
16 / 7739
|
|
104
|
(HPO:0002036)
|
Hiatus hernia |
Occasional [IBIS]
|
8% (n=26)
|
17918734
|
IBIS
|
24 / 7739
|
|
105
|
(HPO:0001711)
|
Abnormality of the left ventricle |
Occasional [IBIS]
|
7% (n=30)
|
12687501
|
IBIS
|
22 / 7739
|
|
106
|
(HPO:0000518)
|
Cataract |
Occasional [IBIS]
Occasional [Orphanet]
|
6% (n=44)
|
18245432
|
IBIS
|
454 / 7739
|
|
107
|
(HPO:0001107)
|
Ocular albinism |
Occasional [IBIS]
Occasional [Orphanet]
|
6% (n=42)
|
18245432
|
IBIS
|
40 / 7739
|
|
108
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [IBIS]
Very frequent [Orphanet]
|
|
18245432
|
IBIS
|
180 / 7739
|
|
109
|
(HPO:0001513)
|
Obesity |
Occasional [IBIS]
Occasional [Orphanet]
|
|
24750553
|
IBIS
|
172 / 7739
|
|
110
|
(HPO:0000464)
|
Abnormality of the neck |
Occasional [IBIS]
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
31 / 7739
|
|
111
|
(HPO:0012581)
|
Solitary renal cyst |
Occasional [IBIS]
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
7 / 7739
|
|
112
|
(HPO:0005608)
|
Bilobate gallbladder |
Occasional [IBIS]
|
|
18245432
|
IBIS
|
3 / 7739
|
|
113
|
(HPO:0030048)
|
Colpocephaly |
Occasional [IBIS]
|
|
18245432
|
IBIS
|
4 / 7739
|
|
114
|
(HPO:0004440)
|
Coronal craniosynostosis |
Occasional [IBIS]
|
|
18245432
|
IBIS
|
38 / 7739
|
|
115
|
(HPO:0004443)
|
Lambdoidal craniosynostosis |
Occasional [IBIS]
|
|
18245432
|
IBIS
|
15 / 7739
|
|
116
|
(HPO:0001331)
|
Absent septum pellucidum |
Occasional [IBIS]
|
|
18245432
|
IBIS
|
16 / 7739
|
|
117
|
(HPO:0000054)
|
Micropenis |
Rare [IBIS]
Occasional [Orphanet]
|
7% (n=60)
|
18245432
|
IBIS
|
257 / 7739
|
|
118
|
(HPO:0100559)
|
Lower limb asymmetry |
Rare [IBIS]
Occasional [Orphanet]
|
7% (n=32)
|
18245432
|
IBIS
|
30 / 7739
|
|
119
|
(HPO:0001647)
|
Bicuspid aortic valve |
Rare [IBIS]
2/30 [HPO:curators]
|
7% (n=30)
|
12687501
|
IBIS
|
34 / 7739
|
|
120
|
(HPO:0008665)
|
Clitoral hypertrophy |
Rare [IBIS]
|
7% (n=60)
|
18245432
|
IBIS
|
10 / 7739
|
|
121
|
(HPO:0006970)
|
Periventricular leukomalacia |
Rare [IBIS]
|
6% (n=49)
|
18245432
|
IBIS
|
7 / 7739
|
|
122
|
(HPO:0001680)
|
Coarctation of aorta |
Rare [IBIS]
|
5% (n=48)
|
18245432
|
IBIS
|
57 / 7739
|
|
123
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Rare [IBIS]
7/30 [HPO:probinson]
|
4% (n=48)
|
18245432
|
IBIS
|
141 / 7739
|
|
124
|
(HPO:0002592)
|
Gastric ulcer |
Rare [IBIS]
|
4% (n=26)
|
17918734
|
IBIS
|
39 / 7739
|
|
125
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
Rare [IBIS]
|
4% (n=49)
|
18245432
|
IBIS
|
18 / 7739
|
|
126
|
(HPO:0002389)
|
Cavum septum pellucidum |
Rare [IBIS]
|
4% (n=49)
|
18245432
|
IBIS
|
13 / 7739
|
|
127
|
(HPO:0000588)
|
Optic nerve coloboma |
Rare [IBIS]
|
3% (n=44)
|
18245432
|
IBIS
|
27 / 7739
|
|
128
|
(HPO:0010316)
|
Ebstein's anomaly of the tricuspid valve |
Rare [IBIS]
1/30 [HPO:curators]
|
3% (n=30)
|
12687501
|
IBIS
|
3 / 7739
|
|
129
|
(HPO:0003100)
|
Slender long bone |
Rare [IBIS]
|
3% (n=32)
|
18245432
|
IBIS
|
45 / 7739
|
|
130
|
(HPO:0004684)
|
Talipes valgus |
Rare [IBIS]
|
3% (n=32)
|
18245432
|
IBIS
|
28 / 7739
|
|
131
|
(HPO:0005850)
|
Congenital talipes calcaneovalgus |
Rare [IBIS]
|
3% (n=32)
|
18245432
|
IBIS
|
2 / 7739
|
|
132
|
(HPO:0009803)
|
Short phalanx of finger |
Rare [IBIS]
|
3% (n=32)
|
18245432
|
IBIS
|
79 / 7739
|
|
133
|
(HPO:0001545)
|
Anteriorly placed anus |
Rare [IBIS]
|
3% (n=60)
|
18245432
|
IBIS
|
55 / 7739
|
|
134
|
(HPO:0002021)
|
Pyloric stenosis |
Rare [IBIS]
Occasional [Orphanet]
|
2% (n=60)
|
18245432
|
IBIS
|
51 / 7739
|
|
135
|
(HPO:0012882)
|
Hyperplastic labia majora |
Rare [IBIS]
|
2% (n=60)
|
18245432
|
IBIS
|
2 / 7739
|
|
136
|
(HPO:0003416)
|
Spinal canal stenosis |
Rare [IBIS]
Occasional [Orphanet]
|
|
17918734
|
IBIS
|
28 / 7739
|
|
137
|
(HPO:0001734)
|
Annular pancreas |
Rare [IBIS]
Occasional [Orphanet]
|
|
17918734
|
IBIS
|
10 / 7739
|
|
138
|
(HPO:0001743)
|
Abnormality of the spleen |
Rare [IBIS]
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
37 / 7739
|
|
139
|
(HPO:0100585)
|
Telangiectasia of the skin |
Rare [IBIS]
Occasional [Orphanet]
|
|
17918734
|
IBIS
|
66 / 7739
|
|
140
|
(HPO:0000204)
|
Cleft upper lip |
Rare [IBIS]
|
|
18245432
|
IBIS
|
193 / 7739
|
|
141
|
(HPO:0000238)
|
Hydrocephalus |
Rare [IBIS]
|
|
26875550
|
IBIS
|
278 / 7739
|
|
142
|
(HPO:0001302)
|
Pachygyria |
Rare [IBIS]
|
|
18245432
|
IBIS
|
60 / 7739
|
|
143
|
(HPO:0000175)
|
Cleft palate |
Rare [IBIS]
|
|
18245432
|
IBIS
|
349 / 7739
|
|
144
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Rare [IBIS]
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
36 / 7739
|
|
145
|
(HPO:0005989)
|
Redundant neck skin |
Rare [IBIS]
|
|
17918734
|
IBIS
|
40 / 7739
|
|
146
|
(HPO:0002566)
|
Intestinal malrotation |
Rare [IBIS]
|
|
17918734
|
IBIS
|
89 / 7739
|
|
147
|
(HPO:0001034)
|
Hypermelanotic macule |
Rare [IBIS]
|
|
17918734
|
IBIS
|
22 / 7739
|
|
148
|
(HPO:0001161)
|
Hand polydactyly |
Rare [IBIS]
|
|
7473653
|
IBIS
|
71 / 7739
|
|
149
|
(HPO:0003367)
|
Abnormality of the femoral neck |
Rare [IBIS]
|
|
18245432
|
IBIS
|
1 / 7739
|
|
150
|
(HPO:0002580)
|
Volvulus |
Rare [IBIS]
|
|
18245432
|
IBIS
|
10 / 7739
|
|
151
|
(HPO:0001385)
|
Hip dysplasia |
Rre [IBIS]
|
3% (n=32)
|
18245432
|
IBIS
|
242 / 7739
|
|
152
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
34 / 7739
|
|
153
|
(HPO:0001324)
|
Muscle weakness |
|
|
12376748
|
IBIS
|
859 / 7739
|
|
154
|
(HPO:0004760)
|
Congenital septal defect |
Occasional [Orphanet]
|
|
26893599
|
IBIS
|
69 / 7739
|
|
155
|
(HPO:0000369)
|
Low-set ears |
|
|
17918734; 26345236
|
IBIS
|
372 / 7739
|
|
156
|
(HPO:0001397)
|
Hepatic steatosis |
Occasional [Orphanet]
|
|
21145995
|
IBIS
|
75 / 7739
|
|
157
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
18245432
|
IBIS
|
161 / 7739
|
|
158
|
(HPO:0001080)
|
Biliary tract abnormality |
Occasional [Orphanet]
|
|
21160384
|
IBIS
|
26 / 7739
|
|
159
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
18245432
|
IBIS
|
318 / 7739
|
|
160
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
146 / 7739
|
|
161
|
(HPO:0000742)
|
Self-mutilation |
|
|
18245432
|
IBIS
|
27 / 7739
|
|
162
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
26893599
|
IBIS
|
366 / 7739
|
|
163
|
(HPO:0011220)
|
Prominent forehead |
|
|
21199750
|
IBIS
|
137 / 7739
|
|
164
|
(HPO:0003198)
|
Myopathy |
Occasional [Orphanet]
|
|
12376748
|
IBIS
|
151 / 7739
|
|
165
|
(HPO:0008551)
|
Microtia |
|
|
17918734
|
IBIS
|
98 / 7739
|
|
166
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
26345236
|
IBIS
|
1232 / 7739
|
|
167
|
(HPO:0003006)
|
Neuroblastoma |
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
16 / 7739
|
|
168
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
18245432
|
IBIS
|
165 / 7739
|
|
169
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
18245432
|
IBIS
|
73 / 7739
|
|
170
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
12687501
|
IBIS
|
19 / 7739
|
|
171
|
(HPO:0000543)
|
Optic disc pallor |
|
|
10507720
|
IBIS
|
67 / 7739
|
|
172
|
(HPO:0000581)
|
Blepharophimosis |
|
|
17918734
|
IBIS
|
197 / 7739
|
|
173
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
18245432
|
IBIS
|
19 / 7739
|
|
174
|
(HPO:0000892)
|
Bifid ribs |
|
|
18245432
|
IBIS
|
4 / 7739
|
|
175
|
(HPO:0000902)
|
Rib fusion |
|
|
18245432
|
IBIS
|
19 / 7739
|
|
176
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
20708863
|
IBIS
|
43 / 7739
|
|
177
|
(HPO:0006956)
|
Dilation of lateral ventricles |
|
|
20034097
|
IBIS
|
13 / 7739
|
|
178
|
(HPO:0010865)
|
Oppositional defiant disorder |
|
|
18245432
|
IBIS
|
2 / 7739
|
|
179
|
(HPO:0000921)
|
Missing ribs |
|
|
18245432
|
IBIS
|
62 / 7739
|
|
180
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
17918734
|
IBIS
|
482 / 7739
|
|
181
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
18835671
|
IBIS
|
466 / 7739
|
|
182
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
18245432
|
IBIS
|
171 / 7739
|
|
183
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
26893599
|
IBIS
|
296 / 7739
|
|
184
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
16278903
|
IBIS
|
69 / 7739
|
|
185
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
7473653
|
IBIS
|
492 / 7739
|
|
186
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
10507720
|
IBIS
|
187 / 7739
|
|
187
|
(HPO:0000028)
|
Cryptorchidism |
|
|
26893599
|
IBIS
|
347 / 7739
|
|
188
|
(HPO:0000648)
|
Optic atrophy |
|
|
18245432
|
IBIS
|
238 / 7739
|
|
189
|
(HPO:0000202)
|
Oral cleft |
|
|
26345236
|
IBIS
|
120 / 7739
|
|
190
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
15301904
|
IBIS
|
26 / 7739
|
|
191
|
(HPO:0000347)
|
Micrognathia |
|
|
26875550
|
IBIS
|
426 / 7739
|
|
192
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
26875550
|
IBIS
|
111 / 7739
|
|
193
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
26875550
|
IBIS
|
20 / 7739
|
|
194
|
(HPO:0002118)
|
Abnormality of the cerebral ventricles |
|
|
26875550
|
IBIS
|
1 / 7739
|
|
195
|
(HPO:0002282)
|
Heterotopia |
|
|
26875550
|
IBIS
|
21 / 7739
|
|
196
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
26875550
|
IBIS
|
37 / 7739
|
|
197
|
(HPO:0012433)
|
Abnormal social behavior |
|
|
26875550
|
IBIS
|
7 / 7739
|
|
198
|
(HPO:0002696)
|
Abnormality of the parietal bone |
|
|
26893599
|
IBIS
|
1 / 7739
|
|
199
|
(HPO:0000463)
|
Anteverted nares |
|
|
17850629
|
IBIS
|
305 / 7739
|
|
200
|
(HPO:0010944)
|
Abnormality of the renal pelvis |
|
|
18245432
|
IBIS
|
3 / 7739
|
|
201
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
24433376
|
IBIS
|
147 / 7739
|