|
1
|
(HPO:0000965)
|
Cutis marmorata |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
|
2
|
(HPO:0001537)
|
Umbilical hernia |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
|
3
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
4
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
|
5
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0001643)
|
Patent ductus arteriosus |
rare [HPO:skoehler]
|
|
|
|
228 / 7739
|
|
7
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0001800)
|
Hypoplastic toenails |
|
|
|
|
74 / 7739
|
|
9
|
(HPO:0001831)
|
Short toe |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
10
|
(HPO:0100797)
|
Toenail dysplasia |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Aplasia cutis of scalp |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
13
|
(OMIM)
|
Bony defect of scalp underlying cutis aplasia (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Absent distal phalanges of some or all toes (in some patients) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Absent middle phalanges of some toes (rare) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Soft tissue syndactyly |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Cafe-au-lait spots on chest and abdomen (rare) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Aplastic toenails |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Temporal lobe infarct (rare) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Occipital lobe infarct (rare) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|