Symptom Information: Sort according to HPO 

1
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
2
 (HPO:0010305) Absence of the sacrum Occasional [Orphanet] 17 / 7739
3
 (HPO:0002006) Facial cleft Frequent [Orphanet] 25 / 7739
4
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
5
 (HPO:0000581) Blepharophimosis Occasional [Orphanet] 197 / 7739
6
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
7
 (HPO:0000528) Anophthalmia 42 / 7739
8
 (HPO:0000568) Microphthalmia 183 / 7739
9
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
10
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
11
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
12
 (HPO:0000119) Abnormality of the genitourinary system 34 / 7739
13
 (HPO:0000400) Macrotia 108 / 7739
14
 (HPO:0000925) Abnormality of the vertebral column 20 / 7739
15
 (HPO:0002744) Bilateral cleft lip and palate 7 / 7739
16
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
17
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
18
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Occasional [Orphanet] 41 / 7739
19
 (OMIM) Uterus unicornis 1 / 7739
20
 (OMIM) Bilateral lateral facial cleft 1 / 7739
21
 (OMIM) Open sacral neural tube defect 1 / 7739
22
 (OMIM) Bilateral anophthalmia 1 / 7739
23
 (OMIM) Absent ear lobule 1 / 7739
24
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
25
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
26
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
27
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739