|
1
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
4
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0007227)
|
Macrogyria |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0000612)
|
Iris coloboma |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
9
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
10
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
11
|
(HPO:0000202)
|
Oral cleft |
Very frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
12
|
(HPO:0000384)
|
Preauricular skin tag |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
14
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
15
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
16
|
(HPO:0002566)
|
Intestinal malrotation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
18
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
|
19
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
20
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
21
|
(HPO:0000079)
|
Abnormality of the urinary system |
|
|
|
|
88 / 7739
|
|
22
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
23
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
24
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
25
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
26
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
27
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
29
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
30
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
31
|
(HPO:0001864)
|
Clinodactyly of the 5th toe |
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
33
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
34
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
35
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
36
|
(HPO:0007744)
|
Iridoretinal coloboma |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
38
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
39
|
(HPO:0009765)
|
Low hanging columella |
|
|
|
|
9 / 7739
|
|
40
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
41
|
(HPO:0010557)
|
Overlapping fingers |
|
|
|
|
9 / 7739
|
|
42
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
43
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
44
|
(OMIM)
|
Atresia of external auditory canal |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
46
|
(OMIM)
|
Long columella |
|
|
|
|
3 / 7739
|
|
47
|
(OMIM)
|
Delayed closing of the ductus arteriosus |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Anorectal malformation |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Heterotopic kidney |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
51
|
(OMIM)
|
Dysgenesis of the corpus callosum (1 patient) |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
53
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
54
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
55
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
56
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
57
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
58
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|