|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
5
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
7
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
8
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
9
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
10
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
14
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
15
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
16
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
17
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
|
|
20 / 7739
|
|
18
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
19
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
20
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
21
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
22
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
23
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
24
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
25
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
26
|
(OMIM)
|
Reticulolinear skin defects, congenital (4/4 patients) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Asymmetric face |
|
|
|
|
5 / 7739
|
|
28
|
(OMIM)
|
Limited eyelid closure (1/4 patients) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Long upslanting palpebral fissures (1/4 patients) |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Altered visual evoked potentials (1/4 patients) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Asymmetric thorax (1/4 patients) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Diaphragmatic hernia, right-sided (1/4 patients) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Renal agenesis, left-sided (1/4 patients) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Ureteral duplication, right-sided (1/4 patients) |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
36
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
|
37
|
(OMIM)
|
Reticulolinear skin defects over face and neck (4/4 patients) |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Erythroderma, patchy, on cheeks and chin (1/4 patients) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Mild perivascular lymphocyte infiltrate in perilesional skin (1/4 patients) |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Regeneration of dermis in perilesional skin (1/4 patients) |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
No intraepidermal or subepidermal cleavage in perilesional skin (1/4 patients) |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Uninvolved skin unremarkable (1/4 patients) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Cytoplasmic bodies, 80 nm to 100 nm, with electron-dense membrane, within keratinocytes of perilesional skin (1/4 patients) |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|