|
1
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0001760)
|
Abnormality of the foot |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0001155)
|
Abnormality of the hand |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
6
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0009743)
|
Distichiasis |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
15
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
16
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
17
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
18
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
19
|
(HPO:0000066)
|
Labial hypoplasia |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
21
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
22
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
23
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
24
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
25
|
(HPO:0002221)
|
Absent axillary hair |
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0002555)
|
Absent pubic hair |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
28
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
29
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
30
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
31
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
32
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
34
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
35
|
(OMIM)
|
Thin eyelashes |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Irregular nystagmus |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Tarsal hypoplasia |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Small breast |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Unpigmented areola |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Albinoidism |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|