Symptom Information: Sort according to HPO 

1
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
2
 (HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
3
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
4
 (HPO:0001602) Laryngeal stenosis Frequent [Orphanet] 21 / 7739
5
 (HPO:0000568) Microphthalmia 183 / 7739
6
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
7
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
8
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
11
 (HPO:0002777) Tracheal stenosis Frequent [Orphanet] 35 / 7739
12
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
13
 (HPO:0003057) Tetraamelia 3 / 7739
14
 (HPO:0009827) Amelia Very frequent [Orphanet] 12 / 7739
15
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
16
 (HPO:0100842) Septo-optic dysplasia Frequent [Orphanet] 8 / 7739
17
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 191 / 7739
18
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
19
 (HPO:0004599) Absent or minimally ossified vertebral bodies Frequent [Orphanet] 18 / 7739
20
 (HPO:0002101) Abnormal lung lobation Frequent [Orphanet] 33 / 7739
21
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Frequent [Orphanet] 28 / 7739
22
 (HPO:0000142) Abnormality of the vagina Frequent [Orphanet] 24 / 7739
23
 (HPO:0000148) Vaginal atresia 16 / 7739
24
 (HPO:0000042) Absent external genitalia 3 / 7739
25
 (HPO:0000068) Urethral atresia 8 / 7739
26
 (HPO:0000104) Renal agenesis 68 / 7739
27
 (HPO:0000175) Cleft palate 349 / 7739
28
 (HPO:0000204) Cleft upper lip 193 / 7739
29
 (HPO:0000369) Low-set ears 372 / 7739
30
 (HPO:0000453) Choanal atresia 76 / 7739
31
 (HPO:0000775) Abnormality of the diaphragm 62 / 7739
32
 (HPO:0001195) Single umbilical artery 23 / 7739
33
 (HPO:0001543) Gastroschisis 11 / 7739
34
 (HPO:0004408) Abnormality of the sense of smell Frequent [Orphanet] 28 / 7739
35
 (HPO:0005316) Peripheral pulmonary vessel aplasia 1 / 7739
36
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
37
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Very frequent [Orphanet] 18 / 7739
38
 (HPO:0011743) Adrenal gland agenesis 2 / 7739
39
 (OMIM) Single nares 1 / 7739
40
 (OMIM) Bilobar right lung 1 / 7739
41
 (OMIM) Splenic agenesis 2 / 7739
42
 (OMIM) Malformed uterus 1 / 7739
43
 (OMIM) Rudimentary ovaries 1 / 7739
44
 (OMIM) Rudimentary salpinges 1 / 7739
45
 (OMIM) Pelvic hypoplasia 2 / 7739
46
 (OMIM) Limb amelia 2 / 7739
47
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
48
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
49
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
50
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
51
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
52
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Frequent [Orphanet] 142 / 7739
53
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
54
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
55
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
56
 (HPO:0001425) Heterogeneous 132 / 7739
57
 (HPO:0001746) Asplenia 19 / 7739
58
 (HPO:0008697) Hypoplasia of the fallopian tube 3 / 7739
59
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
60
 (HPO:0009932) Single naris 10 / 7739