|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
11
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
12
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
13
|
(HPO:0001582)
|
Redundant skin |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
16
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
20
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
21
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
22
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
23
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
24
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
25
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
26
|
(HPO:0003160)
|
Abnormal isoelectric focusing of serum transferrin |
|
|
|
|
10 / 7739
|
|
27
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
28
|
(HPO:0009125)
|
Lipodystrophy |
|
|
|
|
54 / 7739
|
|
29
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
30
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
31
|
(OMIM)
|
Feeding problems in infancy |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Delayed closure of the fontanel |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Excessive skin folds |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Abnormal, broken, shortened elastic fibers |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Decreased amount of elastin |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Sparse, brittle hair |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
38
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
39
|
(OMIM)
|
Abnormal distribution of subcutaneous fat |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Partial pachygyria |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Cobblestone lissencephaly, posterior frontal and parietal regions |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Board and poorly defined gyri |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Defect in N- and O-glycosylation |
|
|
|
|
1 / 7739
|