1
|
(HPO:0000160)
|
Narrow mouth |
rare [HPO:skoehler]
|
|
|
|
188 / 7739
|
2
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
3
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
4
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
5
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
6
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
9
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
10
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
14
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
15
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
16
|
(HPO:0001321)
|
Cerebellar hypoplasia |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
17
|
(HPO:0002003)
|
Large forehead |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
18
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
19
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
20
|
(HPO:0100539)
|
Periorbital edema |
|
|
|
|
8 / 7739
|
21
|
(HPO:0100540)
|
Palpebral edema |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
22
|
(OMIM)
|
Short ears |
|
|
|
|
2 / 7739
|
23
|
(OMIM)
|
Wide flat nose |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Abnormally implanted teeth (in 1 family) |
|
|
|
|
1 / 7739
|
25
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
26
|
(OMIM)
|
Dysmetria, mild |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Hippocampal atrophy (1 patient) |
|
|
|
|
2 / 7739
|
28
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
29
|
(OMIM)
|
Behavioral difficulties |
|
|
|
|
2 / 7739
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
31
|
(HPO:0400005)
|
Short ear |
rare [HPO:skoehler]
|
|
|
|
1 / 7739
|