|
1
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
|
9
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
10
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
11
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
12
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
13
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
16
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
17
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
18
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
19
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0001601)
|
Laryngomalacia |
|
|
|
|
61 / 7739
|
|
21
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
22
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
23
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
24
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
25
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
26
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
30
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
31
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
32
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
33
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
34
|
(OMIM)
|
Strabismus, mild |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000174)
|
Abnormality of the palate |
|
|
|
|
298 / 7739
|
|
36
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
37
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
38
|
(OMIM)
|
Gastrectasia |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Distension of gall-bladder |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Pyelectasis |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Double right kidney |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Clinodactyly of 5th fingers |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
44
|
(OMIM)
|
Chiari type I malformation |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Agenesis of the rostrum of corpus callosum |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Anterior commissure not evident |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Reduced size of the pituitary gland |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Partial empty sella turcica |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
50
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
51
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
52
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
53
|
(OMIM)
|
Elevated TSH |
|
|
|
|
3 / 7739
|
|
54
|
(OMIM)
|
Low growth hormone levels |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Low ACTH level |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Anomalies of cholesterol levels |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
58
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|