|
1
|
(HPO:0000142)
|
Abnormality of the vagina |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
3
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
4
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
5
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
8
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
9
|
(HPO:0000632)
|
Lacrimation abnormality |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
11
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
12
|
(HPO:0001100)
|
Heterochromia iridis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
13
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
14
|
(HPO:0011365)
|
Patchy hypopigmentation of hair |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
16
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
17
|
(HPO:0002475)
|
Myelomeningocele |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
18
|
(HPO:0005214)
|
Intestinal obstruction |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
20
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
21
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
22
|
(HPO:0000153)
|
Abnormality of the mouth |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
23
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
24
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
25
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
26
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
27
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
28
|
(HPO:0012851)
|
Colonic stenosis |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
32
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
33
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
34
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
35
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
36
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
37
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
38
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
39
|
(HPO:0001452)
|
Autosomal dominant contiguous gene syndrome |
|
|
|
|
4 / 7739
|
|
40
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
|
41
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
42
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
43
|
(HPO:0007443)
|
Partial albinism |
|
|
|
|
8 / 7739
|
|
44
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
|
45
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
46
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
|
47
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|