|
1
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
5
|
(HPO:0000395)
|
Prominent antihelix |
|
|
|
|
6 / 7739
|
|
6
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
7
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0001063)
|
Acrocyanosis |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
11
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
13
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
14
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
17
|
(HPO:0001662)
|
Bradycardia |
|
|
|
|
41 / 7739
|
|
18
|
(HPO:0001678)
|
Atrioventricular block |
|
|
|
|
59 / 7739
|
|
19
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
21
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
22
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
23
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
24
|
(HPO:0004523)
|
Long eyebrows |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0009183)
|
Joint contracture of the 5th finger |
|
|
|
|
8 / 7739
|
|
26
|
(OMIM)
|
Microcephaly, progressive, severe (-8 to -11 SD) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Thin, long eyebrows |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Thin vermilion of the upper lip |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Second degree atrioventricular heart block |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
|
|
|
|
22 / 7739
|
|
31
|
(HPO:0002271)
|
Autonomic dysregulation |
|
|
|
|
11 / 7739
|
|
32
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
33
|
(OMIM)
|
Long tapered fingers |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Crowded toes |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Skin mottling due to poor perfusion |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Prolonged capillary refill |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
38
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
39
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
40
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
41
|
(OMIM)
|
Lack of independent ambulation |
|
|
|
|
6 / 7739
|
|
42
|
(OMIM)
|
Unable to grasp objects |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
|
44
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
45
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
46
|
(HPO:0100651)
|
Type I diabetes mellitus |
|
|
|
|
44 / 7739
|
|
47
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
48
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|