|
1
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0000625)
|
Cleft eyelid |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0002558)
|
Supernumerary nipple |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
7
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
15
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
16
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
18
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
19
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
20
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
|
|
73 / 7739
|
|
21
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
22
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
23
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
24
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
|
25
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
|
26
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
27
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
28
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
29
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
30
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
|
31
|
(HPO:0002946)
|
Supernumerary vertebrae |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
|
33
|
(HPO:0005211)
|
Midgut malrotation |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
35
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
36
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
37
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
38
|
(OMIM)
|
Rib defects |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
In-curving forearms |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Absence of fifth digit |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000492)
|
Abnormality of the eyelid |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
42
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
43
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|