1
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
2
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
3
|
(HPO:0002211)
|
White forelock |
|
|
|
|
18 / 7739
|
4
|
(HPO:0011365)
|
Patchy hypopigmentation of hair |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
5
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
6
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
7
|
(HPO:0002002)
|
Deep philtrum |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
8
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
9
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
10
|
(HPO:0001631)
|
Atria septal defect |
Very frequent [Orphanet]
|
|
|
|
274 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
12
|
(HPO:0000592)
|
Blue sclerae |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
13
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
14
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
16
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
17
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
18
|
(HPO:0002290)
|
Poliosis |
|
|
|
|
3 / 7739
|
19
|
(HPO:0002780)
|
Bronchomalacia |
|
|
|
|
7 / 7739
|
20
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
21
|
(HPO:0007457)
|
Prominent veins on trunk |
|
|
|
|
1 / 7739
|
22
|
(HPO:0010185)
|
Aplasia/Hypoplasia of the distal phalanges of the toes |
|
|
|
|
4 / 7739
|
23
|
(OMIM)
|
Prominent thoracic and abdominal veins |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Segmental bronchomalacia with atelectasis |
|
|
|
|
1 / 7739
|
25
|
(HPO:0012252)
|
Abnormal respiratory system morphology |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
26
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|