1
|
(HPO:0000232)
|
Everted lower lip vermilion |
Occasional [Orphanet]
|
|
|
|
90 / 7739
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
3
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
6
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
7
|
(HPO:0000294)
|
Low anterior hairline |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
9
|
(HPO:0000341)
|
Narrow forehead |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
10
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
11
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
12
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
13
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
14
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
15
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
16
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
17
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
18
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
19
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
20
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
21
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
22
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
23
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
24
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
25
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
26
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
27
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
28
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
29
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
30
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
31
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
32
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
33
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
34
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
35
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
36
|
(HPO:0009700)
|
Finger symphalangism |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
37
|
(HPO:0009928)
|
Thick nasal alae |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
38
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
39
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
40
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
41
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
42
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
43
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
44
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
45
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
46
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
47
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
49
|
(HPO:0000698)
|
Conical tooth |
Occasional [HPO:probinson]
|
|
|
|
14 / 7739
|
50
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
51
|
(HPO:0001592)
|
Selective tooth agenesis |
Occasional [HPO:skoehler]
|
|
|
|
16 / 7739
|
52
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
53
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
54
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
55
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
56
|
(HPO:0007529)
|
Hidrotic ectodermal dysplasia |
|
|
|
|
3 / 7739
|
57
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|