|
1
|
(HPO:0100026)
|
Arteriovenous malformation |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
2
|
(HPO:0001631)
|
Atria septal defect |
Very frequent [Orphanet]
|
|
|
|
274 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0000162)
|
Glossoptosis |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
8
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
9
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
10
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
11
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
13
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
14
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
16
|
(HPO:0000199)
|
Tongue nodules |
rare [HPO:skoehler]
|
|
|
|
5 / 7739
|
|
17
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
18
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
19
|
(HPO:0000395)
|
Prominent antihelix |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
21
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
22
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
23
|
(HPO:0000879)
|
Short sternum |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
24
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
25
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
26
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
27
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
|
|
20 / 7739
|
|
28
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
29
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
30
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
31
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
32
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
33
|
(HPO:0001636)
|
Tetralogy of Fallot |
rare [HPO:skoehler]
|
|
|
|
104 / 7739
|
|
34
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
35
|
(HPO:0006191)
|
Deep palmar crease |
|
|
|
|
16 / 7739
|
|
36
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
37
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
|
38
|
(HPO:0012725)
|
Cutaneous syndactyly |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
|
40
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
|
41
|
(HPO:0100259)
|
Postaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|