|
1
|
(HPO:0000243)
|
Trigonocephaly |
rare [HPO:skoehler]
|
|
|
|
40 / 7739
|
|
2
|
(HPO:0000248)
|
Brachycephaly |
rare [HPO:skoehler]
|
|
|
|
222 / 7739
|
|
3
|
(HPO:0000262)
|
Turricephaly |
rare [HPO:skoehler]
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0000268)
|
Dolichocephaly |
rare [HPO:skoehler]
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
8
|
(HPO:0001085)
|
Papilledema |
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
10
|
(HPO:0001822)
|
Hallux valgus |
rare [HPO:skoehler]
|
|
|
|
70 / 7739
|
|
11
|
(HPO:0009803)
|
Short phalanx of finger |
rare [HPO:skoehler]
|
|
|
|
79 / 7739
|
|
12
|
(HPO:0011067)
|
Mesiodens |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0011069)
|
Increased number of teeth |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
|
14
|
(HPO:0100798)
|
Fingernail dysplasia |
rare [HPO:skoehler]
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Sloping or flat forehead |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Exorbitism |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Class III malocclusion (rare) |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Ectopic eruption |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Metopic suture synostosis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Coronal suture synostosis |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Sagittal suture synostosis |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Lambdoid suture synostosis (in some patients) |
|
|
|
|
1 / 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
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
|
28
|
(OMIM)
|
Broad first toe |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
30
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
31
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
32
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
33
|
(OMIM)
|
Syndactyly of second and third toes, mild (in some patients) |
|
|
|
|
1 / 7739
|
|
34
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
37
|
(HPO:0004442)
|
Sagittal craniosynostosis |
|
|
|
|
16 / 7739
|
|
38
|
(HPO:0004443)
|
Lambdoidal craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
15 / 7739
|
|
39
|
(HPO:0030084)
|
Clinodactyly |
rare [HPO:skoehler]
|
|
|
|
90 / 7739
|