1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
3/5 [HPO]
|
|
18241066
|
IBIS
|
172 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
4/5 [HPO]
|
|
18241066
|
IBIS
|
832 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
5
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
6
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
Occasional [Orphanet]
1/4 [HPO]
|
|
18241066
|
IBIS
|
290 / 7739
|
8
|
(HPO:0001852)
|
Sandal gap |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
1/4 [HPO]
|
|
18241066
|
IBIS
|
328 / 7739
|
10
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
11
|
(HPO:0000239)
|
Large fontanelles |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
12
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
1/5 [HPO]
|
|
18241066
|
IBIS
|
298 / 7739
|
13
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
14
|
(HPO:0000348)
|
High forehead |
Occasional [Orphanet]
|
|
|
|
157 / 7739
|
15
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
16
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
17
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
18
|
(HPO:0002002)
|
Deep philtrum |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
19
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
20
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
21
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
22
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
23
|
(HPO:0001836)
|
Camptodactyly of toe |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
24
|
(HPO:0001249)
|
Intellectual disability |
3/4 [HPO]
|
|
18241066
|
IBIS
|
1089 / 7739
|
25
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
26
|
(HPO:0000341)
|
Narrow forehead |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
27
|
(HPO:0000276)
|
Long face |
1/4 [HPO]
|
|
18241066
|
IBIS
|
109 / 7739
|
28
|
(HPO:0000311)
|
Round face |
3/4 [HPO]
|
|
18241066
|
IBIS
|
104 / 7739
|
29
|
(HPO:0000414)
|
Bulbous nose |
3/4 [HPO]
|
|
18241066
|
IBIS
|
63 / 7739
|
30
|
(HPO:0000581)
|
Blepharophimosis |
1/4 [HPO]
|
|
18241066
|
IBIS
|
197 / 7739
|
31
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
32
|
(HPO:0001763)
|
Pes planus |
2/4 [HPO]
|
|
18241066
|
IBIS
|
176 / 7739
|
33
|
(HPO:0002162)
|
Low posterior hairline |
1/4 [HPO]
|
|
18241066
|
IBIS
|
88 / 7739
|
34
|
(HPO:0003196)
|
Short nose |
2/4 [HPO]
|
|
18241066
|
IBIS
|
264 / 7739
|
35
|
(HPO:0006114)
|
Multiple palmar creases |
2/4 [HPO]
|
|
18241066
|
IBIS
|
3 / 7739
|
36
|
(OMIM)
|
Excessive hand creases |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
38
|
(OMIM)
|
1.61- and 1.76-Mb microduplication of 3q29 |
|
|
|
|
1 / 7739
|
39
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
41
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
42
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
43
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
44
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
46
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|