1
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
4
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
5
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
7
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
8
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
9
|
(HPO:0000965)
|
Cutis marmorata |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
10
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
12
|
(HPO:0002020)
|
Gastroesophageal reflux |
rare [HPO:skoehler]
|
|
|
|
101 / 7739
|
13
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
14
|
(HPO:0002937)
|
Hemivertebrae |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
16
|
(HPO:0008428)
|
Vertebral clefting |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
17
|
(HPO:0100777)
|
Exostoses |
|
|
|
|
32 / 7739
|
18
|
(OMIM)
|
Long lashes |
|
|
|
|
1 / 7739
|
19
|
(HPO:0003872)
|
Humeral exostoses |
|
|
|
|
1 / 7739
|
20
|
(HPO:0100774)
|
Hyperostosis |
|
|
|
|
17 / 7739
|
21
|
(OMIM)
|
Radioulnar abnormalities (in some patients) |
|
|
|
|
1 / 7739
|
22
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
23
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
24
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
25
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
26
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
27
|
(OMIM)
|
Cognitive delay, mild to severe |
|
|
|
|
1 / 7739
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
29
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
30
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|