|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
6
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
13
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
14
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
15
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
16
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
18
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
19
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
20
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
21
|
(HPO:0002084)
|
Encephalocele |
|
|
|
|
70 / 7739
|
|
22
|
(HPO:0011815)
|
Cephalocele |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
24
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
25
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
26
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
|
27
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
|
|
40 / 7739
|
|
28
|
(HPO:0006970)
|
Periventricular leukomalacia |
|
|
|
|
7 / 7739
|
|
29
|
(HPO:0007589)
|
Aplasia cutis congenita on trunk or limbs |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0007590)
|
Aplasia cutis congenita over posterior parietal area |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0004476)
|
Aplasia cutis congenita over parietal area |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
33
|
(HPO:0100026)
|
Arteriovenous malformation |
|
|
|
|
38 / 7739
|
|
34
|
(OMIM)
|
Poland sequence |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Imperforate vaginal hymen |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Skull defect at vertex |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Terminal transverse defects, asymmetric |
|
|
|
|
3 / 7739
|
|
38
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
39
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
40
|
(OMIM)
|
Malformed toes |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Thin, hyperpigmented skin |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Dilated scalp veins radiating from periphery of scalp defect |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Single-multiple round-oval areas of alopecia in parietal area |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
45
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
46
|
(OMIM)
|
Periventricular calcifications |
|
|
|
|
1 / 7739
|