|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0000243)
|
Trigonocephaly |
|
|
|
|
40 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
6
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
7
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
11
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
12
|
(OMIM)
|
Hemorrhagic diathesis, mild |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Giant platelet alpha granules (peripheral blood) |
|
|
|
|
1 / 7739
|
|
14
|
(MedDRA:10027120)
|
Megakaryocytes increased |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Increased micromegakaryocytes (bone marrow) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Chromosome 11q23.3 deletion |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
18
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
19
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|