1
|
(HPO:0000311)
|
Round face |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
2
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
3
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
4
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
5
|
(HPO:0000307)
|
Pointed chin |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
6
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
7
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
8
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
9
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
10
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
11
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
12
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
13
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
14
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
15
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
16
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
17
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
18
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
20
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
21
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
22
|
(HPO:0001572)
|
Macrodontia |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
23
|
(HPO:0002162)
|
Low posterior hairline |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
24
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
26
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
27
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
28
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
29
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
30
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
31
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
32
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
33
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
34
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
35
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
36
|
(HPO:0000891)
|
Cervical ribs |
|
|
|
|
8 / 7739
|
37
|
(HPO:0000902)
|
Rib fusion |
|
|
|
|
19 / 7739
|
38
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
39
|
(HPO:0001566)
|
Widely-spaced maxillary central incisors |
|
|
|
|
15 / 7739
|
40
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
|
|
14 / 7739
|
41
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
42
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
43
|
(HPO:0008438)
|
Vertebral arch anomaly |
|
|
|
|
1 / 7739
|
44
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
45
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
46
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
47
|
(OMIM)
|
Round face early in life |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Triangular face later in life |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Broad bushy eyebrows |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Ridged teeth |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Fused incisors |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Cervical rib fusion |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Accessory cervical ribs |
|
|
|
|
1 / 7739
|
54
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
55
|
(OMIM)
|
Decreased hand length |
|
|
|
|
1 / 7739
|
56
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
57
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
58
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
59
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
60
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
61
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
62
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|