1
|
(HPO:0009914)
|
Cyclopia |
Occasional [Orphanet]
rare [HPO]
|
|
12503095
|
IBIS
|
11 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
occasional [HPO]
|
|
|
|
832 / 7739
|
3
|
(HPO:0009800)
|
Maternal diabetes |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
4
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
5
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
6
|
(HPO:0000446)
|
Narrow nasal bridge |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
7
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
8
|
(HPO:0100867)
|
Duodenal stenosis |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
9
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
10
|
(HPO:0002099)
|
Asthma |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
11
|
(HPO:0010804)
|
Tented upper lip vermilion |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
13
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
14
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
15
|
(HPO:0010644)
|
Midnasal stenosis |
9/14 [HPO]
|
|
11471164
|
IBIS
|
2 / 7739
|
16
|
(HPO:0000453)
|
Choanal atresia |
Very frequent [Orphanet]
8/14 [HPO]
|
|
11471164
|
IBIS
|
76 / 7739
|
17
|
(HPO:0006315)
|
Single median maxillary incisor |
Very frequent [Orphanet]
100% [HPO]
|
|
|
|
13 / 7739
|
18
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
19
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
20
|
(HPO:0000830)
|
Anterior hypopituitarism |
|
|
|
|
9 / 7739
|
21
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
22
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
23
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
24
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
25
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
7/14 [HPO]
|
|
11471164
|
IBIS
|
1232 / 7739
|
26
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
27
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
28
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
29
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
30
|
(HPO:0000601)
|
Hypotelorism |
Frequent [Orphanet]
8/14 [HPO]
|
|
11471164
|
IBIS
|
83 / 7739
|
31
|
(HPO:0001328)
|
Specific learning disability |
5/14 [HPO]
|
|
11471164
|
IBIS
|
114 / 7739
|
32
|
(HPO:0000204)
|
Cleft upper lip |
1/14 [HPO]
|
|
11471164
|
IBIS
|
193 / 7739
|
33
|
(HPO:0000458)
|
Anosmia |
occasional [HPO]
|
|
|
|
49 / 7739
|
34
|
(HPO:0000528)
|
Anophthalmia |
rare [HPO]
|
|
12503095
|
IBIS
|
42 / 7739
|
35
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO]
|
|
12503095
|
IBIS
|
183 / 7739
|
36
|
(HPO:0000589)
|
Coloboma |
occasional [HPO]
|
|
12503095
|
IBIS
|
47 / 7739
|
37
|
(HPO:0000824)
|
Growth hormone deficiency |
5/7 [HPO]
|
|
925821
|
IBIS
|
56 / 7739
|
38
|
(HPO:0001256)
|
Intellectual disability, mild |
3/14 [HPO]
|
|
11471164
|
IBIS
|
141 / 7739
|
39
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
1/14 [HPO]
|
|
11471164
|
IBIS
|
16 / 7739
|
40
|
(HPO:0002708)
|
Prominent median palatal raphe |
14/14 [HPO]
|
|
11471164
|
IBIS
|
4 / 7739
|
41
|
(HPO:0002916)
|
Abnormality of chromosome segregation |
2/14 [HPO]
|
|
11471164
|
IBIS
|
5 / 7739
|
42
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
43
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
44
|
(HPO:0100789)
|
Torus palatinus |
|
|
|
|
6 / 7739
|
45
|
(OMIM)
|
Congenital nasal pyriform aperture stenosis |
|
|
|
|
2 / 7739
|
46
|
(OMIM)
|
Isolated growth hormone deficiency |
|
|
|
|
4 / 7739
|
47
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
49
|
(HPO:0040075)
|
Hypopituitarism |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
50
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
51
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
52
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
53
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
54
|
(HPO:0001360)
|
Holoprosencephaly |
frequent [HPO]
|
|
|
|
29 / 7739
|
55
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|