1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
3
|
(HPO:0009738)
|
Abnormality of the antihelix |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
4
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
5
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
7
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
9
|
(HPO:0100625)
|
Enlarged thorax |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
11
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
12
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
13
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
14
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
15
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
16
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
17
|
(HPO:0001004)
|
Lymphedema |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
19
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
20
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
21
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
22
|
(HPO:0002162)
|
Low posterior hairline |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
24
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
25
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
26
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
27
|
(HPO:0000133)
|
Gonadal dysgenesis |
|
|
|
|
21 / 7739
|
28
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
29
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
30
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
31
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
32
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
33
|
(HPO:0000692)
|
Misalignment of teeth |
|
|
|
|
18 / 7739
|
34
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
35
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
36
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
37
|
(HPO:0005989)
|
Redundant neck skin |
|
|
|
|
40 / 7739
|
38
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
39
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
40
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
41
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
42
|
(OMIM)
|
Upturned nostrils |
|
|
|
|
1 / 7739
|
43
|
(HPO:0000050)
|
Hypoplastic male external genitalia |
|
|
|
|
10 / 7739
|
44
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
45
|
(OMIM)
|
Deletion of chromosome 18p11.2 |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
47
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
48
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
49
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
50
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
51
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
52
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
53
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
54
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
55
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
56
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
57
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|