|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
291 / 7739
|
|
2
|
(HPO:0000212)
|
Gingival overgrowth |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
43 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
2/11 [HPO:sdoelken]
|
|
14684694
|
IBIS
|
298 / 7739
|
|
4
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
644 / 7739
|
|
7
|
(HPO:0000403)
|
Recurrent otitis media |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
61 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
576 / 7739
|
|
9
|
(HPO:0000964)
|
Eczema |
1/11 [HPO:sdoelken]
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
3/11 [HPO:sdoelken]
|
|
14684694
|
IBIS
|
1089 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001508)
|
Failure to thrive |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
454 / 7739
|
|
13
|
(HPO:0001537)
|
Umbilical hernia |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
206 / 7739
|
|
14
|
(HPO:0001629)
|
Ventricular septal defect |
1/11 [HPO:sdoelken]
|
|
12118250
|
IBIS
|
316 / 7739
|
|
15
|
(HPO:0001761)
|
Pes cavus |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
225 / 7739
|
|
16
|
(HPO:0001873)
|
Thrombocytopenia |
1/11 [HPO:sdoelken]
|
|
|
|
224 / 7739
|
|
17
|
(HPO:0001875)
|
Neutropenia |
1/11 [HPO:sdoelken]
|
|
|
|
83 / 7739
|
|
18
|
(HPO:0001902)
|
Giant platelets |
1/11 [HPO:sdoelken]
|
|
10457411
|
IBIS
|
11 / 7739
|
|
19
|
(HPO:0002007)
|
Frontal bossing |
2/2 [HPO:sdoelken]
|
|
|
|
366 / 7739
|
|
20
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
96 / 7739
|
|
21
|
(HPO:0002395)
|
Lower limb hyperreflexia |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
26 / 7739
|
|
22
|
(HPO:0002808)
|
Kyphosis |
1/11 [HPO:sdoelken]
|
|
|
|
289 / 7739
|
|
23
|
(HPO:0002916)
|
Abnormality of chromosome segregation |
hallmark [HPO:sdoelken]
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0003502)
|
Mild short stature |
2/11 [HPO:sdoelken]
|
|
14684694
|
IBIS
|
19 / 7739
|
|
25
|
(HPO:0005280)
|
Depressed nasal bridge |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
381 / 7739
|
|
26
|
(HPO:0006895)
|
Lower limb hypertonia |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
4 / 7739
|
|
27
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
45 / 7739
|
|
28
|
(HPO:0009099)
|
Median cleft palate |
1/1 [HPO:sdoelken]
|
|
16007606
|
IBIS
|
3 / 7739
|
|
29
|
(HPO:0009824)
|
Upper limb undergrowth |
1/11 [HPO:sdoelken]
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0010041)
|
Short 3rd metacarpal |
1/11 [HPO:sdoelken]
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0010044)
|
Short 4th metacarpal |
1/11 [HPO:sdoelken]
|
|
|
|
14 / 7739
|
|
32
|
(HPO:0010047)
|
Short 5th metacarpal |
1/11 [HPO:sdoelken]
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
34
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
35
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
|
36
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
37
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
|
38
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
39
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
40
|
(OMIM)
|
Hypolobulated (bilobed or rod-like) granulocyte nuclei (heterozygote) |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Ovoid granulocyte nuclei (homozygote) |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Coarse granulocyte chromatin |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
44
|
(HPO:0011447)
|
Hyposegmentation of neutrophil nuclei |
|
|
|
|
3 / 7739
|