1
|
(HPO:0000369)
|
Low-set ears |
Very frequent [IBIS]
|
94% (n=17)
|
7506965
|
IBIS
|
372 / 7739
|
2
|
(HPO:0000347)
|
Micrognathia |
Very frequent [IBIS]
|
94% (n=16)
|
7506965
|
IBIS
|
426 / 7739
|
3
|
(HPO:0000377)
|
Abnormality of the pinna |
Very frequent [IBIS]
|
94% (n=17)
|
7506965
|
IBIS
|
111 / 7739
|
4
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [IBIS]
|
89% (n=9)
|
7506965
|
IBIS
|
160 / 7739
|
5
|
(HPO:0012385)
|
Camptodactyly |
Frequent [IBIS]
|
86% (n=7)
|
7506965
|
IBIS
|
113 / 7739
|
6
|
(HPO:0003808)
|
Abnormal muscle tone |
Frequent [IBIS]
|
82% (n=11)
|
7506965
|
IBIS
|
3 / 7739
|
7
|
(HPO:0000260)
|
Wide anterior fontanel |
Frequent [IBIS]
|
80% (n=5)
|
7506965
|
IBIS
|
55 / 7739
|
8
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [IBIS]
|
77% (n=13)
|
7506965
|
IBIS
|
162 / 7739
|
9
|
(HPO:0000508)
|
Ptosis |
Frequent [IBIS]
Very frequent [Orphanet]
|
73% (n=11)
|
7506965
|
IBIS
|
459 / 7739
|
10
|
(HPO:0002751)
|
Kyphoscoliosis |
Frequent [IBIS]
|
73% (n=11)
|
7506965
|
IBIS
|
131 / 7739
|
11
|
(HPO:0000252)
|
Microcephaly |
Frequent [IBIS]
Very frequent [Orphanet]
|
69% (n=16)
|
7506965
|
IBIS
|
832 / 7739
|
12
|
(HPO:0000175)
|
Cleft palate |
Frequent [IBIS]
|
69% (n=16)
|
7506965
|
IBIS
|
349 / 7739
|
13
|
(HPO:0000218)
|
High palate |
Frequent [IBIS]
|
69% (n=16)
|
7506965
|
IBIS
|
356 / 7739
|
14
|
(HPO:0000486)
|
Strabismus |
Frequent [IBIS]
|
69% (n=13)
|
7506965
|
IBIS
|
576 / 7739
|
15
|
(HPO:0001166)
|
Arachnodactyly |
Frequent [IBIS]
|
67% (n=12)
|
7506965
|
IBIS
|
62 / 7739
|
16
|
(HPO:0000506)
|
Telecanthus |
Frequent [IBIS]
|
57% (n=7)
|
7506965
|
IBIS
|
156 / 7739
|
17
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [IBIS]
Occasional [Orphanet]
|
47% (n=15)
|
7506965
|
IBIS
|
309 / 7739
|
18
|
(HPO:0003457)
|
EMG abnormality |
Frequent [IBIS]
|
33% (n=6)
|
7506965
|
IBIS
|
78 / 7739
|
19
|
(HPO:0000766)
|
Abnormality of the sternum |
Frequent [IBIS]
|
|
23162309
|
IBIS
|
31 / 7739
|
20
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
281 / 7739
|
21
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
24649842
|
IBIS
|
137 / 7739
|
22
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
23162309
|
IBIS
|
136 / 7739
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
990 / 7739
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
7081292
|
IBIS
|
859 / 7739
|
25
|
(HPO:0000298)
|
Mask-like facies |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
44 / 7739
|
26
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
7081292
|
IBIS
|
188 / 7739
|
27
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
197 / 7739
|
28
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
24649842
|
IBIS
|
278 / 7739
|
29
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
7081292
|
IBIS
|
244 / 7739
|
30
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
2202217
|
IBIS
|
78 / 7739
|
31
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
24649842
|
IBIS
|
142 / 7739
|
32
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
23162309
|
IBIS
|
180 / 7739
|
33
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
24726473
|
IBIS
|
705 / 7739
|
34
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
7551165
|
IBIS
|
140 / 7739
|
35
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
24649842
|
IBIS
|
289 / 7739
|
36
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
24649842
|
IBIS
|
212 / 7739
|
37
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
23162309
|
IBIS
|
316 / 7739
|
38
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
24649842
|
IBIS
|
358 / 7739
|
39
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
15693875
|
IBIS
|
1232 / 7739
|
40
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
3591834
|
IBIS
|
51 / 7739
|
41
|
(HPO:0001651)
|
Dextrocardia |
Occasional [Orphanet]
|
|
23162309
|
IBIS
|
38 / 7739
|
42
|
(HPO:0001249)
|
Intellectual disability |
|
|
24649842
|
IBIS
|
1089 / 7739
|
43
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
23162309
|
IBIS
|
250 / 7739
|
44
|
(HPO:0000023)
|
Inguinal hernia |
|
|
23162309
|
IBIS
|
181 / 7739
|
45
|
(HPO:0000028)
|
Cryptorchidism |
|
|
7506965
|
IBIS
|
347 / 7739
|
46
|
(HPO:0000054)
|
Micropenis |
|
|
7506965
|
IBIS
|
257 / 7739
|
47
|
(HPO:0000316)
|
Hypertelorism |
|
|
24649842
|
IBIS
|
644 / 7739
|
48
|
(HPO:0000470)
|
Short neck |
|
|
24649842
|
IBIS
|
345 / 7739
|
49
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
24726473
|
IBIS
|
79 / 7739
|
50
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
24649842
|
IBIS
|
114 / 7739
|
51
|
(HPO:0002044)
|
Zollinger-Ellison syndrome |
|
|
463823
|
IBIS
|
2 / 7739
|
52
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
2202217
|
IBIS
|
80 / 7739
|
53
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
24649842
|
IBIS
|
41 / 7739
|
54
|
(HPO:0002803)
|
Congenital contracture |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
45 / 7739
|
55
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
23162309
|
IBIS
|
27 / 7739
|
56
|
(HPO:0005329)
|
Fixed facial expression |
|
|
24649842
|
IBIS
|
1 / 7739
|
57
|
(HPO:0007068)
|
Inferior vermis hypoplasia |
|
|
24649842
|
IBIS
|
6 / 7739
|
58
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
2202217
|
IBIS
|
127 / 7739
|
59
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
7551165
|
IBIS
|
113 / 7739
|
60
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
24649842
|
IBIS
|
482 / 7739
|
61
|
(OMIM)
|
Absence of primitive reflexes |
|
|
1519648
|
IBIS
|
1 / 7739
|
62
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
24649842
|
IBIS
|
88 / 7739
|
63
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
7506965
|
IBIS
|
394 / 7739
|
64
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
24649842
|
IBIS
|
126 / 7739
|
65
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
492 / 7739
|
66
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
328 / 7739
|
67
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
298 / 7739
|
68
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
23162309
|
IBIS
|
275 / 7739
|
69
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
24649842
|
IBIS
|
949 / 7739
|
70
|
(HPO:0001263)
|
Global developmental delay |
|
|
24726473
|
IBIS
|
853 / 7739
|
71
|
(HPO:0002580)
|
Volvulus |
|
|
15053474
|
IBIS
|
10 / 7739
|
72
|
(HPO:0000272)
|
Malar flattening |
|
|
24649842
|
IBIS
|
277 / 7739
|
73
|
(HPO:0002828)
|
Multiple joint contractures |
|
|
24649842
|
IBIS
|
16 / 7739
|
74
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
24649842
|
IBIS
|
169 / 7739
|
75
|
(HPO:0009553)
|
Abnormality of the hairline |
|
|
24649842
|
IBIS
|
30 / 7739
|
76
|
(HPO:0000574)
|
Thick eyebrow |
|
|
24649842
|
IBIS
|
96 / 7739
|
77
|
(HPO:0000527)
|
Long eyelashes |
|
|
24649842
|
IBIS
|
46 / 7739
|
78
|
(HPO:0012368)
|
Flat face |
|
|
24649842
|
IBIS
|
106 / 7739
|
79
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
24649842
|
IBIS
|
328 / 7739
|
80
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
24649842
|
IBIS
|
79 / 7739
|
81
|
(HPO:0000883)
|
Thin ribs |
|
|
24649842
|
IBIS
|
31 / 7739
|
82
|
(HPO:0002827)
|
Hip dislocation |
|
|
24649842
|
IBIS
|
94 / 7739
|
83
|
(HPO:0006956)
|
Dilation of lateral ventricles |
|
|
24649842
|
IBIS
|
13 / 7739
|
84
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
24649842
|
IBIS
|
171 / 7739
|
85
|
(HPO:0001385)
|
Hip dysplasia |
|
|
24649842
|
IBIS
|
242 / 7739
|
86
|
(HPO:0003066)
|
Limited knee extension |
|
|
24649842
|
IBIS
|
4 / 7739
|
87
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
24649842
|
IBIS
|
13 / 7739
|
88
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
24649842
|
IBIS
|
27 / 7739
|
89
|
(HPO:0006659)
|
Internally rotated shoulders |
|
|
24649842
|
IBIS
|
2 / 7739
|
90
|
(HPO:0009004)
|
Hypoplasia of the musculature |
|
|
24649842
|
IBIS
|
7 / 7739
|
91
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
24649842
|
IBIS
|
56 / 7739
|
92
|
(HPO:0000337)
|
Broad forehead |
|
|
24649842
|
IBIS
|
116 / 7739
|
93
|
(HPO:0009890)
|
High anterior hairline |
|
|
24649842
|
IBIS
|
10 / 7739
|
94
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
24649842
|
IBIS
|
90 / 7739
|
95
|
(HPO:0002857)
|
Genu valgum |
|
|
24649842
|
IBIS
|
144 / 7739
|
96
|
(HPO:0006184)
|
Decreased palmar creases |
|
|
24649842
|
IBIS
|
5 / 7739
|
97
|
(HPO:0030799)
|
Scaphocephaly |
|
|
24649842
|
IBIS
|
2 / 7739
|
98
|
(MedDRA:10013976)
|
Dyspraxia |
|
|
24649842
|
IBIS
|
3 / 7739
|
99
|
(HPO:0002186)
|
Apraxia |
|
|
24649842
|
IBIS
|
22 / 7739
|
100
|
(HPO:0010526)
|
Dysgraphia |
|
|
24649842
|
IBIS
|
3 / 7739
|
101
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
24649842
|
IBIS
|
59 / 7739
|
102
|
(HPO:0001058)
|
Poor wound healing |
|
|
24649842
|
IBIS
|
9 / 7739
|
103
|
(HPO:0003074)
|
Hyperglycemia |
|
|
24649842
|
IBIS
|
37 / 7739
|
104
|
(HPO:0003811)
|
Neonatal death |
|
|
15693875
|
IBIS
|
44 / 7739
|
105
|
(HPO:0001903)
|
Anemia |
|
|
24649842
|
IBIS
|
289 / 7739
|
106
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
7081292
|
IBIS
|
85 / 7739
|
107
|
(HPO:0001600)
|
Abnormality of the larynx |
|
|
2202217
|
IBIS
|
15 / 7739
|
108
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
23162309
|
IBIS
|
355 / 7739
|
109
|
(HPO:0000041)
|
Chordee |
|
|
7506965
|
IBIS
|
11 / 7739
|
110
|
(HPO:0030148)
|
Heart murmur |
|
|
7506965
|
IBIS
|
29 / 7739
|
111
|
(HPO:0003115)
|
Abnormal EKG |
|
|
7506965
|
IBIS
|
44 / 7739
|
112
|
(HPO:0000711)
|
Restlessness |
|
|
7551165
|
IBIS
|
18 / 7739
|
113
|
(HPO:0000718)
|
Aggressive behavior |
|
|
7551165
|
IBIS
|
109 / 7739
|
114
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
|
|
23162309
|
IBIS
|
34 / 7739
|
115
|
(HPO:0001508)
|
Failure to thrive |
|
|
23162309
|
IBIS
|
454 / 7739
|