1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
3
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
4
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
7
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
8
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
9
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
12
|
(HPO:0011803)
|
Bifid nose |
|
|
|
|
12 / 7739
|
13
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
14
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
15
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
16
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
17
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
18
|
(HPO:0001245)
|
Small thenar eminence |
|
|
|
|
10 / 7739
|
19
|
(HPO:0002006)
|
Facial cleft |
|
|
|
|
25 / 7739
|
20
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
21
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
22
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
23
|
(HPO:0100542)
|
Abnormal localization of kidney |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
24
|
(OMIM)
|
Micrognathia, mild |
|
|
|
|
8 / 7739
|
25
|
(OMIM)
|
Cleft nose |
|
|
|
|
1 / 7739
|
26
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
27
|
(HPO:0000366)
|
Abnormality of the nose |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
29
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
31
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|