Symptom Information: Sort according to HPO 

1
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
2
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
3
 (HPO:0000615) Abnormality of the pupil Very frequent [Orphanet] 39 / 7739
4
 (HPO:0000616) Miosis 11 / 7739
5
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
6
 (HPO:0001872) Abnormality of thrombocytes Very frequent [Orphanet] 20 / 7739
7
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
8
 (HPO:0001746) Asplenia 19 / 7739
9
 (HPO:0001892) Abnormal bleeding 85 / 7739
10
 (HPO:0001928) Abnormality of coagulation Very frequent [Orphanet] 44 / 7739
11
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
 (HPO:0001743) Abnormality of the spleen Very frequent [Orphanet] 37 / 7739
13
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
14
 (HPO:0002076) Migraine 41 / 7739
15
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
 (HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739
17
 (HPO:0003750) Increased muscle fatiguability 8 / 7739
18
 (HPO:0010522) Dyslexia 7 / 7739
19
 (OMIM) Absent spleen by computerized tomography 1 / 7739
20
 (OMIM) Howell-Jolly bodies 1 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (HPO:0000421) Epistaxis 85 / 7739
23
 (HPO:0000448) Prominent nose 56 / 7739
24
 (HPO:0000601) Hypotelorism 83 / 7739
25
 (HPO:0001873) Thrombocytopenia 224 / 7739
26
 (HPO:0002401) Stroke-like episodes rare [HPO:skoehler] 10 / 7739
27
 (HPO:0003198) Myopathy 151 / 7739
28
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
29
 (HPO:0003326) Myalgia 143 / 7739
30
 (HPO:0003701) Proximal muscle weakness 105 / 7739