1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
3
|
(HPO:0001182)
|
Tapered finger |
Occasional [Orphanet]
|
|
15918153
|
IBIS
|
93 / 7739
|
4
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
15918153
|
IBIS
|
136 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
15918153
|
IBIS
|
832 / 7739
|
6
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
15918153
|
IBIS
|
108 / 7739
|
7
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
9
|
(HPO:0000275)
|
Narrow face |
Occasional [Orphanet]
|
|
15918153
|
IBIS
|
76 / 7739
|
10
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
15918153
|
IBIS
|
109 / 7739
|
11
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
12
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
15918153
|
IBIS
|
244 / 7739
|
13
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
15
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
16
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
17
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
18
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
19
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
15918153
|
IBIS
|
121 / 7739
|
20
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
21
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
15918153
|
IBIS
|
288 / 7739
|
22
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
23
|
(HPO:0001288)
|
Gait disturbance |
Occasional [Orphanet]
|
|
|
|
318 / 7739
|
24
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
25
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
26
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
15918153
|
IBIS
|
130 / 7739
|
27
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
28
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
29
|
(HPO:0001249)
|
Intellectual disability |
|
|
15918153
|
IBIS
|
1089 / 7739
|
30
|
(HPO:0001263)
|
Global developmental delay |
|
|
15918153
|
IBIS
|
853 / 7739
|
31
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
32
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
33
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
34
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
35
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
36
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
37
|
(HPO:0000733)
|
Stereotypy |
|
|
15918153
|
IBIS
|
58 / 7739
|
38
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
39
|
(HPO:0002066)
|
Gait ataxia |
|
|
15918153
|
IBIS
|
327 / 7739
|
40
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
41
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
42
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
43
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
44
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
45
|
(OMIM)
|
Long narrow face |
|
|
|
|
11 / 7739
|
46
|
(OMIM)
|
Long tapered fingers |
|
|
|
|
3 / 7739
|
47
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
48
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
49
|
(OMIM)
|
Subtelomeric deletion of long arm of chromosome 3 (3q29) |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
51
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
52
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
53
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
54
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
55
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
56
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
57
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
58
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
59
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
60
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|