Symptom Information: Sort according to HPO 

1
 (HPO:0009756) Popliteal pterygium Very frequent [Orphanet] 9 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
4
 (HPO:0000625) Cleft eyelid Frequent [Orphanet] 31 / 7739
5
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
6
 (HPO:0100240) Synostosis of joints Very frequent [Orphanet] 11 / 7739
7
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
8
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
9
 (HPO:0000561) Absent eyelashes 18 / 7739
10
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
11
 (HPO:0007759) Opacification of the corneal stroma rare [HPO:skoehler] 77 / 7739
12
 (HPO:0009755) Ankyloblepharon 10 / 7739
13
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
14
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
15
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
16
 (HPO:0000161) Median cleft lip Very frequent [Orphanet] 27 / 7739
17
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
18
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
19
 (HPO:0002223) Absent eyebrow 21 / 7739
20
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
21
 (HPO:0009777) Absent thumb 31 / 7739
22
 (HPO:0000050) Hypoplastic male external genitalia rare [HPO:skoehler] 10 / 7739
23
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
24
 (HPO:0000062) Ambiguous genitalia 74 / 7739
25
 (HPO:0000078) Abnormality of the genital system Very frequent [Orphanet] 33 / 7739
26
 (HPO:0000175) Cleft palate 349 / 7739
27
 (HPO:0000204) Cleft upper lip 193 / 7739
28
 (HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
29
 (HPO:0000327) Hypoplasia of the maxilla rare [HPO:skoehler] 129 / 7739
30
 (HPO:0000369) Low-set ears 372 / 7739
31
 (HPO:0000378) Cupped ear rare [HPO:skoehler] 34 / 7739
32
 (HPO:0000528) Anophthalmia 42 / 7739
33
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
34
 (HPO:0011478) True anophthalmia 17 / 7739
35
 (HPO:0000882) Hypoplastic scapulae rare [HPO:skoehler] 28 / 7739
36
 (HPO:0001159) Syndactyly 140 / 7739
37
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
38
 (HPO:0001792) Small nail 55 / 7739
39
 (HPO:0001798) Anonychia 28 / 7739
40
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
41
 (HPO:0002006) Facial cleft 25 / 7739
42
 (HPO:0002025) Anal stenosis 23 / 7739
43
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
44
 (HPO:0006610) Wide intermamillary distance rare [HPO:skoehler] 46 / 7739
45
 (HPO:0007418) Alopecia totalis rare [HPO:skoehler] 6 / 7739
46
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
47
 (HPO:0008689) Bilateral cryptorchidism rare [HPO:skoehler] 38 / 7739
48
 (HPO:0009803) Short phalanx of finger 79 / 7739
49
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
50
 (OMIM) Ankyloblepharon filiforme 2 / 7739
51
 (OMIM) Medial canthal webbing (in some patients) 1 / 7739
52
 (OMIM) Filiform bands between mandible and maxilla 1 / 7739
53
 (OMIM) Asymmetric nipples (in some patients) 1 / 7739
54
 (OMIM) Low-set umbilicus (in some patients) 1 / 7739
55
 (OMIM) Absent clitoris (in some patients) 1 / 7739
56
 (OMIM) Hypoplasia of iliac wing (in some patients) 2 / 7739
57
 (OMIM) Bony synostosis 1 / 7739
58
 (OMIM) Oligosyndactyly of toes 1 / 7739
59
 (OMIM) Popliteal pterygium, bilateral 1 / 7739
60
 (OMIM) Axillary pterygium, bilateral (in some patients) 1 / 7739
61
 (OMIM) Inguinal pterygium, bilateral (in some patients) 1 / 7739
62
 (OMIM) Pterygium of elbow, bilateral (in some patients) 1 / 7739
63
 (OMIM) Pterygium of wrist, bilateral (in some patients) 1 / 7739
64
 (OMIM) Pterygium of bilateral (in some patients) 1 / 7739
65
 (OMIM) Skin tags on chest 1 / 7739
66
 (OMIM) Skin tags on palms (in some patients) 1 / 7739
67
 (OMIM) Skin tags on genitalia (in some patients) 1 / 7739
68
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
69
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
70
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
71
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
72
 (HPO:0000315) Abnormality of the orbital region Very frequent [Orphanet] 18 / 7739
73
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
74
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
75
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739