| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 13q34 | ?Retinal arteries, tortuosity of | 180000 | AD | 3 |
| {Hemorrhage, intracerebral, susceptibility to} | 614519 | 3 | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 611773 | AD | 3 | |
| Brain small vessel disease with or without ocular anomalies | 175780 | AD | 3 | |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 618564 | AD | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 13q34 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 611773 | AD | 3 | COL4A1 | 120130 |
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|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 13q34 | Brain small vessel disease with or without ocular anomalies | 175780 | AD | 3 | COL4A1 | 120130 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 13q34 | Brain small vessel disease with or without ocular anomalies | AD | 3 | 175780 | COL4A1 | 120130 |
| 13q34 | Brain small vessel disease 2 | AD | 3 | 614483 | COL4A2 | 120090 |
| 19p13.11 | Brain small vessel disease 3 | AR | 3 | 618360 | COLGALT1 | 617531 |
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