|
1
|
(HPO:0001669)
|
Transposition of the great arteries |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0001792)
|
Small nail |
rare [HPO:skoehler]
|
|
|
|
55 / 7739
|
|
4
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
7
|
(HPO:0000239)
|
Large fontanelles |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
8
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
10
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
11
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
305 / 7739
|
|
12
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
13
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
14
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
15
|
(HPO:0010055)
|
Broad hallux |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
18
|
(HPO:0006695)
|
Atrioventricular canal defect |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
19
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
20
|
(HPO:0000343)
|
Long philtrum |
Occasional [Orphanet]
|
|
|
|
262 / 7739
|
|
21
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
22
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
23
|
(HPO:0001177)
|
Preaxial hand polydactyly |
|
|
|
|
59 / 7739
|
|
24
|
(HPO:0001407)
|
Hepatic cysts |
|
|
|
|
9 / 7739
|
|
25
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
26
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
27
|
(HPO:0010066)
|
Duplication of phalanx of hallux |
|
|
|
|
9 / 7739
|
|
28
|
(OMIM)
|
Complex cardiac malformation |
|
|
|
|
3 / 7739
|
|
29
|
(MedDRA:10010967)
|
Cor biloculare |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
31
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
|
32
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
33
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
34
|
(HPO:0001800)
|
Hypoplastic toenails |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
35
|
(HPO:0000288)
|
Abnormality of the philtrum |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
36
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
37
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
38
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|