|
1
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
4
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0009914)
|
Cyclopia |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
8
|
(HPO:0005990)
|
Thyroid hypoplasia |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0000160)
|
Narrow mouth |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
14
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
15
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
16
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
17
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
18
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
19
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
20
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
21
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
22
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
23
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
24
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
25
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
26
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
|
27
|
(HPO:0009932)
|
Single naris |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
28
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
29
|
(HPO:0002101)
|
Abnormal lung lobation |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
30
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
31
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
32
|
(HPO:0002139)
|
Arrhinencephaly |
|
|
|
|
13 / 7739
|
|
33
|
(HPO:0000062)
|
Ambiguous genitalia |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
34
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
35
|
(HPO:0000601)
|
Hypotelorism |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
36
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
37
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
38
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
39
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
40
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
41
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
|
42
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
43
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
44
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
45
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
46
|
(HPO:0001651)
|
Dextrocardia |
|
|
|
|
38 / 7739
|
|
47
|
(HPO:0001674)
|
Complete atrioventricular canal defect |
|
|
|
|
11 / 7739
|
|
48
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
49
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
|
|
37 / 7739
|
|
50
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
51
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
52
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
53
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
54
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
55
|
(HPO:0008501)
|
Median cleft lip and palate |
|
|
|
|
7 / 7739
|
|
56
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
57
|
(HPO:0011662)
|
Tricuspid atresia |
|
|
|
|
4 / 7739
|
|
58
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
59
|
(OMIM)
|
Cebocephaly |
|
|
|
|
2 / 7739
|
|
60
|
(HPO:0100335)
|
Non-midline cleft lip |
|
|
|
|
12 / 7739
|
|
61
|
(OMIM)
|
Malsegmentation |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Deep scrotal raphe |
|
|
|
|
1 / 7739
|
|
63
|
(MedDRA:10063146)
|
Uterine hypoplasia |
|
|
|
|
3 / 7739
|
|
64
|
(OMIM)
|
Duplicate uterus |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Duplicate vagina |
|
|
|
|
1 / 7739
|
|
66
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
67
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
68
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
69
|
(OMIM)
|
Absent olfactory bulbs and tracts |
|
|
|
|
2 / 7739
|
|
70
|
(OMIM)
|
Normal karyotype |
|
|
|
|
5 / 7739
|
|
71
|
(HPO:0012443)
|
Abnormality of brain morphology |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
72
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
73
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
74
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
75
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
76
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|