1
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
2
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
3
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
4
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
6
|
(HPO:0000789)
|
Infertility |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
7
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
8
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
9
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
10
|
(HPO:0000474)
|
Thickened nuchal skin fold |
|
|
|
|
10 / 7739
|
11
|
(HPO:0005989)
|
Redundant neck skin |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
12
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
13
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
14
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
15
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
16
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
17
|
(HPO:0007021)
|
Pain insensitivity |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
18
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
19
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
20
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
21
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
22
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
23
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
24
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
25
|
(HPO:0007495)
|
Prematurely aged appearance |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
26
|
(HPO:0100830)
|
Round ear |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
27
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
28
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
29
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
30
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
31
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
32
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
33
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
34
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
35
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
36
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
37
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
38
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
39
|
(HPO:0000194)
|
Open mouth |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
40
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
41
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
42
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
43
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
44
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
45
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
46
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
47
|
(HPO:0001088)
|
Brushfield spots |
|
|
|
|
8 / 7739
|
48
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
49
|
(HPO:0001674)
|
Complete atrioventricular canal defect |
|
|
|
|
11 / 7739
|
50
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
51
|
(HPO:0002511)
|
Alzheimer disease |
|
|
|
|
10 / 7739
|
52
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
53
|
(HPO:0003182)
|
Shallow acetabular fossae |
|
|
|
|
10 / 7739
|
54
|
(HPO:0003467)
|
Atlantoaxial instability |
|
|
|
|
6 / 7739
|
55
|
(HPO:0004220)
|
Short middle phalanx of the 5th finger |
|
|
|
|
17 / 7739
|
56
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
57
|
(HPO:0006733)
|
Acute megakaryocytic leukemia |
|
|
|
|
1 / 7739
|
58
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
59
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
60
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
61
|
(HPO:0100867)
|
Duodenal stenosis |
|
|
|
|
29 / 7739
|
62
|
(OMIM)
|
Flat facial profile |
|
|
|
|
6 / 7739
|
63
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
64
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
65
|
(OMIM)
|
Hypotonia, poor Moro reflex |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Leukemoid reactions |
|
|
|
|
1 / 7739
|
67
|
(HPO:0001909)
|
Leukemia |
|
|
|
|
46 / 7739
|
68
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
69
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
70
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
71
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
|
|
|
|
230 / 7739
|
72
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
73
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
74
|
(HPO:0005547)
|
Myeloproliferative disorder |
|
|
|
|
7 / 7739
|