Symptom Information: Sort according to HPO 

1
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
2
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
3
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
4
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
5
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
6
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
7
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
8
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
9
 (HPO:0100783) Breast aplasia Frequent [Orphanet] 19 / 7739
10
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
11
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
12
 (HPO:0000561) Absent eyelashes 18 / 7739
13
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
14
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
15
 (HPO:0009553) Abnormality of the hairline Occasional [Orphanet] 30 / 7739
16
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
17
 (HPO:0100678) Premature skin wrinkling Frequent [Orphanet] 25 / 7739
18
 (HPO:0000430) Underdeveloped nasal alae Very frequent [Orphanet] 90 / 7739
19
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
20
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
21
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
22
 (HPO:0011224) Ablepharon 2 / 7739
23
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
24
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Frequent [Orphanet] 28 / 7739
25
 (HPO:0000062) Ambiguous genitalia Frequent [Orphanet] 74 / 7739
26
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
27
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
28
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
29
 (HPO:0002223) Absent eyebrow 21 / 7739
30
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
31
 (HPO:0000750) Delayed speech and language development 197 / 7739
32
 (HPO:0001126) Cryptophthalmos 3 / 7739
33
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
34
 (HPO:0002933) Ventral hernia 2 / 7739
35
 (HPO:0005105) Abnormal nasal morphology 114 / 7739
36
 (HPO:0011267) Microtia, third degree 1 / 7739
37
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
38
 (OMIM) Zygomatic arches absent 1 / 7739
39
 (OMIM) External ears rudimentary 1 / 7739
40
 (OMIM) Microblepharon 1 / 7739
41
 (OMIM) Shape abnormal 1 / 7739
42
 (OMIM) Coarse skin 2 / 7739
43
 (OMIM) Redundant folds 1 / 7739
44
 (OMIM) Absent lanugo 2 / 7739
45
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
46
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
47
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
48
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
49
 (HPO:0000492) Abnormality of the eyelid Very frequent [Orphanet] 41 / 7739
50
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
51
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
52
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
53
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
55
 (HPO:0000188) Short upper lip rare [HPO:skoehler] 8 / 7739
56
 (HPO:0000316) Hypertelorism 644 / 7739
57
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 309 / 7739