|
porencephaly, type 1, autosomal dominant
|
8289 |
|
|
congenital disorder of glycosylation with dilated cardiomyopathy
|
18289 |
|
|
monosomy 10q chromosome 10
|
C538289 |
|
|
chromosome 10, monosomy 10q
|
C538289 |
|
|
COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
|
8289 |
|
|
porencephaly caused by mutation in COL4A1
|
8289 |
|
|
CDG with dilated cardiomyopathy
|
18289 |
|
|
leukoencephalopathy with axenfeld-rieger anomaly
|
8289 |
|
|
COL4A1-related brain small vessel disease with hemorrhage
|
8289 |
|
|
terminal deletion of chromosome 10q
|
C538289 |
|
|
autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy
|
8289 |
|
|
retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant
|
8289 |
|
|
hemiplegia, infantile, with porencephaly
|
8289 |
|
