|
1
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0011365)
|
Patchy hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0002216)
|
Premature graying of hair |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
4
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
6
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0001022)
|
Albinism |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
10
|
(HPO:0010804)
|
Tented upper lip vermilion |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0001100)
|
Heterochromia iridis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0000912)
|
Sprengel anomaly |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
16
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
17
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
18
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
20
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
21
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
22
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
|
23
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
24
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
25
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
26
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
27
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
28
|
(HPO:0000632)
|
Lacrimation abnormality |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
29
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
30
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
31
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
32
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
33
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
34
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
35
|
(HPO:0001487)
|
Hypopigmented fundi |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0002226)
|
White eyebrow |
|
|
|
|
10 / 7739
|
|
37
|
(HPO:0002227)
|
White eyelashes |
|
|
|
|
11 / 7739
|
|
38
|
(HPO:0002946)
|
Supernumerary vertebrae |
|
|
|
|
3 / 7739
|
|
39
|
(HPO:0003250)
|
Aplasia of the vagina |
|
|
|
|
6 / 7739
|
|
40
|
(HPO:0005815)
|
Supernumerary ribs |
|
|
|
|
9 / 7739
|
|
41
|
(HPO:0007443)
|
Partial albinism |
|
|
|
|
8 / 7739
|
|
42
|
(HPO:0007990)
|
Hypoplastic iris stroma |
|
|
|
|
9 / 7739
|
|
43
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
44
|
(OMIM)
|
Decreased philtrum length |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Laterally displaced inner canthi (dystopia canthorum) (95 to 99%) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Increased intercanthal distance |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Heterochromia iridis, complete or partial |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Bright blue irides |
|
|
|
|
4 / 7739
|
|
49
|
(OMIM)
|
Lower lacrimal dystopia |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Broad, high nasal root |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Decreased nasal bone length |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Absent uterine adnexa (rare) |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Aplasia of posterior semicircular canal on CT scan |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Hypopigmented skin lesions |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
White eyebrows and eyelashes |
|
|
|
|
3 / 7739
|
|
56
|
(HPO:0010301)
|
Spinal dysraphism |
|
|
|
|
14 / 7739
|
|
57
|
(HPO:0002475)
|
Myelomeningocele |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
58
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
59
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
60
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
61
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
|
|
14 / 7739
|