|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000527)
|
Long eyelashes |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0011231)
|
Prominent eyelashes |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
15
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
16
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0000960)
|
Sacral dimple |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
18
|
(HPO:0001182)
|
Tapered finger |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
23
|
(HPO:0002019)
|
Constipation |
rare [HPO:skoehler]
|
|
|
|
194 / 7739
|
|
24
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
25
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
rare [HPO:skoehler]
|
|
|
|
250 / 7739
|
|
27
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
29
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
30
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
31
|
(OMIM)
|
Poor growth in infancy |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Dysmorphic ears |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0002263)
|
Exaggerated cupid's bow |
|
|
|
|
15 / 7739
|
|
34
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
35
|
(OMIM)
|
Hairy elbows |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Hypertrichosis, patchy (in some patients) |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0004554)
|
Generalized hypertrichosis |
|
|
|
|
30 / 7739
|
|
38
|
(HPO:0001252)
|
Muscular hypotonia |
rare [HPO:skoehler]
|
|
|
|
990 / 7739
|
|
39
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
40
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
41
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
42
|
(OMIM)
|
Slim, muscular build (in some patients) |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
44
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|