1
|
(HPO:0000733)
|
Stereotypy |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
3
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
4
|
(HPO:0000272)
|
Malar flattening |
Occasional [Orphanet]
typical [HPO]
|
|
18179902
|
IBIS
|
277 / 7739
|
5
|
(HPO:0002616)
|
Aortic root dilatation |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
6
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
3/5 [HPO]
|
|
18179902
|
IBIS
|
45 / 7739
|
7
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
3/6 [HPO]
|
|
18179902
|
IBIS
|
131 / 7739
|
8
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
9
|
(HPO:0000319)
|
Smooth philtrum |
6/6 [HPO]
|
|
18179902
|
IBIS
|
72 / 7739
|
10
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
11
|
(HPO:0100006)
|
Neoplasm of the central nervous system |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
12
|
(HPO:0010296)
|
Ankyloglossia |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
13
|
(HPO:0000657)
|
Oculomotor apraxia |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
14
|
(HPO:0006487)
|
Bowing of the long bones |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
5/6 [HPO]
|
|
18179902
|
IBIS
|
358 / 7739
|
17
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
18
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
19
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
20
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
21
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
22
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
23
|
(HPO:0000219)
|
Thin upper lip vermilion |
typical [HPO]
|
|
18179902
|
IBIS
|
112 / 7739
|
24
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
25
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
26
|
(HPO:0002607)
|
Bowel incontinence |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
27
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
28
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
29
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
30
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
4/5 [HPO]
|
|
18179902
|
IBIS
|
92 / 7739
|
31
|
(HPO:0001852)
|
Sandal gap |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
32
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
33
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
34
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
35
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
36
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
37
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
38
|
(HPO:0001660)
|
Truncus arteriosus |
Frequent [Orphanet]
1/6 [HPO]
|
|
18179902
|
IBIS
|
21 / 7739
|
39
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
4/6 [HPO]
|
|
18179902
|
IBIS
|
90 / 7739
|
40
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
41
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
42
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
43
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
44
|
(HPO:0003307)
|
Hyperlordosis |
Occasional [Orphanet]
|
|
|
|
122 / 7739
|
45
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
typical [HPO]
|
|
18179902
|
IBIS
|
1232 / 7739
|
46
|
(HPO:0009465)
|
Ulnar deviation of finger |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
47
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
48
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
49
|
(HPO:0009796)
|
Branchial cyst |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
50
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
51
|
(HPO:0001263)
|
Global developmental delay |
4/6 [HPO]
|
|
18179902
|
IBIS
|
853 / 7739
|
52
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
53
|
(HPO:0000708)
|
Behavioral abnormality |
2/6 [HPO]
|
|
18179902
|
IBIS
|
212 / 7739
|
54
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
55
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
56
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
57
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
58
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
59
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
60
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
61
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
62
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
63
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
64
|
(HPO:0001800)
|
Hypoplastic toenails |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
65
|
(HPO:0000175)
|
Cleft palate |
1/6 [HPO]
|
|
|
|
349 / 7739
|