1
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
1695388
|
IBIS
|
290 / 7739
|
6
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
7
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
9
|
(HPO:0000218)
|
High palate |
|
|
20038906
|
IBIS
|
356 / 7739
|
10
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
11
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
14
|
(HPO:0200055)
|
Small hand |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
15
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
16
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
17
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
18
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
19
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
|
|
16953888
|
IBIS
|
62 / 7739
|
20
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
21
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
23
|
(HPO:0000028)
|
Cryptorchidism |
|
|
16953888
|
IBIS
|
347 / 7739
|
24
|
(HPO:0000047)
|
Hypospadias |
|
|
16953888
|
IBIS
|
250 / 7739
|
25
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
|
|
73 / 7739
|
26
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
16953888
|
IBIS
|
72 / 7739
|
27
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
28
|
(HPO:0000202)
|
Oral cleft |
|
|
20038906
|
IBIS
|
120 / 7739
|
29
|
(HPO:0000273)
|
Facial grimacing |
|
|
8957962
|
IBIS
|
6 / 7739
|
30
|
(HPO:0000275)
|
Narrow face |
|
|
16953888
|
IBIS
|
76 / 7739
|
31
|
(HPO:0000276)
|
Long face |
|
|
16953888
|
IBIS
|
109 / 7739
|
32
|
(HPO:0000308)
|
Microretrognathia |
|
|
20038906
|
IBIS
|
78 / 7739
|
33
|
(HPO:0000322)
|
Short philtrum |
|
|
16953888
|
IBIS
|
130 / 7739
|
34
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
35
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
16953888
|
IBIS
|
45 / 7739
|
36
|
(HPO:0000365)
|
Hearing impairment |
|
|
20038906
|
IBIS
|
539 / 7739
|
37
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
38
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
20038906
|
IBIS
|
22 / 7739
|
39
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
40
|
(HPO:0000518)
|
Cataract |
|
|
20038906
|
IBIS
|
454 / 7739
|
41
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
42
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
43
|
(HPO:0000717)
|
Autism |
|
|
18564888
|
IBIS
|
108 / 7739
|
44
|
(HPO:0000718)
|
Aggressive behavior |
|
|
11869383
|
IBIS
|
109 / 7739
|
45
|
(HPO:0000742)
|
Self-mutilation |
|
|
8957962
|
IBIS
|
27 / 7739
|
46
|
(HPO:0000733)
|
Stereotypy |
|
|
11869383
|
IBIS
|
58 / 7739
|
47
|
(HPO:0000736)
|
Short attention span |
|
|
20038906
|
IBIS
|
16 / 7739
|
48
|
(HPO:0000739)
|
Anxiety |
|
|
20038906
|
IBIS
|
67 / 7739
|
49
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
10355811
|
IBIS
|
197 / 7739
|
50
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
51
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
52
|
(HPO:0001042)
|
High axial triradius |
|
|
|
|
4 / 7739
|
53
|
(HPO:0001159)
|
Syndactyly |
|
|
16953888
|
IBIS
|
140 / 7739
|
54
|
(HPO:0001276)
|
Hypertonia |
|
|
20038906
|
IBIS
|
317 / 7739
|
55
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
56
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
57
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
58
|
(HPO:0001540)
|
Diastasis recti |
|
|
16953888
|
IBIS
|
23 / 7739
|
59
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
60
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
61
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
16953888
|
IBIS
|
101 / 7739
|
62
|
(HPO:0002216)
|
Premature graying of hair |
|
|
16953888
|
IBIS
|
43 / 7739
|
63
|
(HPO:0002355)
|
Difficulty walking |
|
|
8957962
|
IBIS
|
61 / 7739
|
64
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
16953888
|
IBIS
|
98 / 7739
|
65
|
(HPO:0002795)
|
Functional respiratory abnormality |
|
|
20038906
|
IBIS
|
13 / 7739
|
66
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
67
|
(HPO:0005437)
|
Recurrent infections in infancy and early childhood |
|
|
16953888
|
IBIS
|
2 / 7739
|
68
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
69
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
16953888
|
IBIS
|
153 / 7739
|
70
|
(HPO:0009102)
|
Anterior open-bite malocclusion |
|
|
16953888
|
IBIS
|
5 / 7739
|
71
|
(HPO:0010049)
|
Short metacarpal |
|
|
16953888
|
IBIS
|
99 / 7739
|
72
|
(HPO:0010529)
|
Echolalia |
|
|
8957962
|
IBIS
|
20 / 7739
|
73
|
(HPO:0010743)
|
Short metatarsal |
|
|
16953888
|
IBIS
|
56 / 7739
|
74
|
(HPO:0010780)
|
Hyperacusis |
|
|
20038906
|
IBIS
|
5 / 7739
|
75
|
(HPO:0010865)
|
Oppositional defiant disorder |
|
|
8957962
|
IBIS
|
2 / 7739
|
76
|
(HPO:0100024)
|
Conspicuously happy disposition |
|
|
8957962
|
IBIS
|
5 / 7739
|
77
|
(HPO:0100025)
|
Overfriendliness |
|
|
8957962
|
IBIS
|
1 / 7739
|
78
|
(HPO:0200046)
|
Cat cry |
|
|
1695388
|
IBIS
|
1 / 7739
|
79
|
(HPO:0011849)
|
Abnormal bone ossification |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
80
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
81
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
82
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
83
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
84
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
85
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|