|
1
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
3
|
(HPO:0001706)
|
Endocardial fibroelastosis |
|
|
|
|
20 / 7739
|
|
4
|
(HPO:0004306)
|
Abnormality of the endocardium |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
6
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
10
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
13
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
14
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
15
|
(HPO:0000072)
|
Hydroureter |
|
|
|
|
146 / 7739
|
|
16
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
17
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
18
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
19
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
20
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
21
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
22
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
23
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
24
|
(HPO:0003764)
|
Nevus |
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0005326)
|
Hypoplastic philtrum |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
27
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
28
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
29
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
30
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
31
|
(HPO:0100542)
|
Abnormal localization of kidney |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
32
|
(OMIM)
|
Stiff, prominent pinnae |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Thumb clinodactyly |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
35
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
36
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
37
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
38
|
(OMIM)
|
Symphalangism |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
|
40
|
(OMIM)
|
Multiple nevi |
|
|
|
|
4 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
43
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|