1
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
2
|
(HPO:0000366)
|
Abnormality of the nose |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
3
|
(HPO:0000369)
|
Low-set ears |
70.0000 % [HPO]
|
|
|
|
372 / 7739
|
4
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
5
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
77.0000 % [HPO]
|
|
|
|
119 / 7739
|
6
|
(HPO:0002139)
|
Arrhinencephaly |
|
|
|
|
13 / 7739
|
7
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
92.0000 % [HPO]
|
|
|
|
191 / 7739
|
8
|
(HPO:0001601)
|
Laryngomalacia |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
9
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
10
|
(HPO:0002323)
|
Anencephaly |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
12
|
(HPO:0002777)
|
Tracheal stenosis |
Frequent [Orphanet]
57.0000 % [HPO]
|
|
|
|
35 / 7739
|
13
|
(HPO:0002983)
|
Micromelia |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
14
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
15
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
16
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
17
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
18
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
19
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
20
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
21
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
22
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
23
|
(HPO:0012252)
|
Abnormal respiratory system morphology |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
24
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
25
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
27
|
(HPO:0000047)
|
Hypospadias |
33.0000 % [HPO]
|
|
|
|
250 / 7739
|
28
|
(HPO:0000126)
|
Hydronephrosis |
16.0000 % [HPO]
|
|
|
|
119 / 7739
|
29
|
(HPO:0000136)
|
Bifid uterus |
33.0000 % [HPO]
|
|
|
|
6 / 7739
|
30
|
(HPO:0000142)
|
Abnormality of the vagina |
|
|
|
|
24 / 7739
|
31
|
(HPO:0000161)
|
Median cleft lip |
|
|
|
|
27 / 7739
|
32
|
(HPO:0000175)
|
Cleft palate |
55.0000 % [HPO]
|
|
|
|
349 / 7739
|
33
|
(HPO:0000347)
|
Micrognathia |
100.0000 % [HPO]
|
|
|
|
426 / 7739
|
34
|
(HPO:0000377)
|
Abnormality of the pinna |
70.0000 % [HPO]
|
|
|
|
111 / 7739
|
35
|
(HPO:0000475)
|
Broad neck |
|
|
|
|
12 / 7739
|
36
|
(HPO:0000568)
|
Microphthalmia |
86.0000 % [HPO]
|
|
|
|
183 / 7739
|
37
|
(HPO:0001177)
|
Preaxial hand polydactyly |
|
|
|
|
59 / 7739
|
38
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
39
|
(HPO:0001331)
|
Absent septum pellucidum |
|
|
|
|
16 / 7739
|
40
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
41
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
42
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
43
|
(HPO:0001674)
|
Complete atrioventricular canal defect |
48.0000 % [HPO]
|
|
|
|
11 / 7739
|
44
|
(HPO:0001747)
|
Accessory spleen |
|
|
|
|
8 / 7739
|
45
|
(HPO:0001762)
|
Talipes equinovarus |
52.0000 % [HPO]
|
|
|
|
309 / 7739
|
46
|
(HPO:0002101)
|
Abnormal lung lobation |
66.0000 % [HPO]
|
|
|
|
33 / 7739
|
47
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
48
|
(HPO:0002536)
|
Abnormal cortical gyration |
|
|
|
|
72 / 7739
|
49
|
(HPO:0003826)
|
Stillbirth |
73.0000 % [HPO]
|
|
|
|
40 / 7739
|
50
|
(HPO:0006379)
|
Proximal tibial hypoplasia |
|
|
|
|
2 / 7739
|
51
|
(HPO:0006882)
|
Severe hydrocephalus |
92.0000 % [HPO]
|
|
|
|
2 / 7739
|
52
|
(HPO:0008216)
|
Adrenal gland dysgenesis |
|
|
|
|
2 / 7739
|
53
|
(HPO:0008749)
|
Laryngeal hypoplasia |
57.0000 % [HPO]
|
|
|
|
5 / 7739
|
54
|
(HPO:0008986)
|
Agenesis of the diaphragm |
|
|
|
|
3 / 7739
|
55
|
(HPO:0009752)
|
Cleft in skull base |
76.0000 % [HPO]
|
|
|
|
2 / 7739
|
56
|
(HPO:0009824)
|
Upper limb undergrowth |
24.0000 % [HPO]
|
|
|
|
8 / 7739
|
57
|
(HPO:0010066)
|
Duplication of phalanx of hallux |
47.0000 % [HPO]
|
|
|
|
9 / 7739
|
58
|
(HPO:0011803)
|
Bifid nose |
|
|
|
|
12 / 7739
|