1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
5
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
6
|
(HPO:0002553)
|
Highly arched eyebrow |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
7
|
(HPO:0003045)
|
Abnormality of the patella |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
9
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
10
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
11
|
(HPO:0001852)
|
Sandal gap |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
12
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
13
|
(HPO:0000498)
|
Blepharitis |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
14
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
17
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
18
|
(HPO:0001347)
|
Hyperreflexia |
Occasional [Orphanet]
|
|
|
|
363 / 7739
|
19
|
(HPO:0002092)
|
Pulmonary hypertension |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
20
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
21
|
(HPO:0011800)
|
Midface retrusion |
Occasional [Orphanet]
|
|
|
|
221 / 7739
|
22
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
23
|
(HPO:0000389)
|
Chronic otitis media |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
24
|
(HPO:0001833)
|
Long foot |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
25
|
(HPO:0010511)
|
Long toe |
|
|
|
|
9 / 7739
|
26
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
27
|
(HPO:0000049)
|
Shawl scrotum |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
28
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
29
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
30
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
31
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
32
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
33
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
34
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
35
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
36
|
(HPO:0001836)
|
Camptodactyly of toe |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
37
|
(HPO:0001763)
|
Pes planus |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
38
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
39
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
40
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
41
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
42
|
(HPO:0001238)
|
Slender finger |
|
|
|
|
23 / 7739
|
43
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
44
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
45
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
46
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
47
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
48
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
49
|
(OMIM)
|
Facial dysmorphism, mild, variable |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Ossification defects |
|
|
|
|
3 / 7739
|
51
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
52
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
53
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
54
|
(HPO:0004684)
|
Talipes valgus |
|
|
|
|
28 / 7739
|
55
|
(HPO:0004696)
|
Talipes cavus equinovarus |
|
|
|
|
13 / 7739
|
56
|
(OMIM)
|
Thin toes |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Developmental delay, mild to moderate |
|
|
|
|
2 / 7739
|
58
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
59
|
(HPO:0000366)
|
Abnormality of the nose |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
60
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
61
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
62
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
63
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
64
|
(HPO:0005105)
|
Abnormal nasal morphology |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
65
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|