|
1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
7
|
(HPO:0000647)
|
Sclerocornea |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
9
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
11
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
12
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
14
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
16
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
|
17
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
20
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
21
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
22
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
23
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
24
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
25
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
26
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0000902)
|
Rib fusion |
|
|
|
|
19 / 7739
|
|
28
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
29
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
30
|
(HPO:0001264)
|
Spastic diplegia |
|
|
|
|
24 / 7739
|
|
31
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
32
|
(HPO:0002444)
|
Hypothalamic hamartoma |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
34
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
35
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
36
|
(HPO:0003316)
|
Butterfly vertebrae |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
38
|
(HPO:0005815)
|
Supernumerary ribs |
|
|
|
|
9 / 7739
|
|
39
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
40
|
(HPO:0008417)
|
Vertebral hypoplasia |
|
|
|
|
6 / 7739
|
|
41
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
42
|
(HPO:0010627)
|
Anterior pituitary hypoplasia |
|
|
|
|
6 / 7739
|
|
43
|
(OMIM)
|
Multiple supernumerary teeth (rare) |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Reduction of white matter, generalized |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Mesial temporal brain malformations |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
47
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
49
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
50
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
51
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
52
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|