1
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
3
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
5
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
7
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
8
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
9
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
10
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
11
|
(HPO:0000524)
|
Conjunctival telangiectasia |
|
|
|
|
17 / 7739
|
12
|
(HPO:0000537)
|
Epicanthus inversus |
|
|
|
|
7 / 7739
|
13
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
14
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
|
|
|
|
15 / 7739
|
15
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
16
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
17
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
18
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
19
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
20
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
21
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
22
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
|
|
40 / 7739
|
23
|
(HPO:0002678)
|
Skull asymmetry |
|
|
|
|
4 / 7739
|
24
|
(HPO:0002974)
|
Radioulnar synostosis |
|
|
|
|
52 / 7739
|
25
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
26
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
27
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
28
|
(HPO:0004443)
|
Lambdoidal craniosynostosis |
|
|
|
|
15 / 7739
|
29
|
(HPO:0006216)
|
Single interphalangeal crease of fifth finger |
|
|
|
|
3 / 7739
|
30
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
31
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
32
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
33
|
(OMIM)
|
Periumbilical depression |
|
|
|
|
1 / 7739
|
34
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
35
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
36
|
(OMIM)
|
Broad, short feet |
|
|
|
|
8 / 7739
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
38
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|