|
1
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
4
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
6
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
7
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
9
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0004150)
|
Abnormality of the 3rd finger |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
12
|
(OMIM)
|
Mesoaxial hexadactyly |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Bifid third finger |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
15
|
(OMIM)
|
Pulmonic valvular stenosis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Ocular torticollis |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|