BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES

PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT, FORMERLY

http://purl.bioontology.org/ontology/OMIM/175780

PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT, FORMERLY

BSVD1

BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE

LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY

BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY

ADT1P, FORMERLY

RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT

T1P, FORMERLY

PORENCEPHALY 1, FORMERLY

POREN1, FORMERLY

PORENCEPHALY, TYPE 1, FORMERLY

HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY

GOULD SYNDROME 1

C4551998

13q34

BSVD1

RATOR

COL4A1

BSVD

PADMAL

HANAC

ICH

http://purl.bioontology.org/ontology/OMIM/MTHU003121

http://purl.bioontology.org/ontology/OMIM/MTHU003122

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU045245

http://purl.bioontology.org/ontology/OMIM/MTHU003126

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU034013

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU015788

http://purl.bioontology.org/ontology/OMIM/MTHU016070

http://purl.bioontology.org/ontology/OMIM/MTHU001899

http://purl.bioontology.org/ontology/OMIM/MTHU036896

http://purl.bioontology.org/ontology/OMIM/MTHU013074

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU067356

http://purl.bioontology.org/ontology/OMIM/MTHU067360

http://purl.bioontology.org/ontology/OMIM/MTHU067354

http://purl.bioontology.org/ontology/OMIM/MTHU000870

http://purl.bioontology.org/ontology/OMIM/MTHU067358

http://purl.bioontology.org/ontology/OMIM/MTHU037111

http://purl.bioontology.org/ontology/OMIM/MTHU035437

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU032601

http://purl.bioontology.org/ontology/OMIM/MTHU011134

http://purl.bioontology.org/ontology/OMIM/MTHU037125

http://purl.bioontology.org/ontology/OMIM/MTHU037209

http://purl.bioontology.org/ontology/OMIM/MTHU003127

http://purl.bioontology.org/ontology/OMIM/MTHU000544

http://purl.bioontology.org/ontology/OMIM/MTHU003125

http://purl.bioontology.org/ontology/OMIM/MTHU003119

http://purl.bioontology.org/ontology/OMIM/MTHU026434

http://purl.bioontology.org/ontology/OMIM/MTHU045246

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU045244

http://purl.bioontology.org/ontology/OMIM/MTHU002370

http://purl.bioontology.org/ontology/OMIM/MTHU036505

http://purl.bioontology.org/ontology/OMIM/MTHU043724

http://purl.bioontology.org/ontology/OMIM/MTHU046037

http://purl.bioontology.org/ontology/OMIM/MTHU006276

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU029060

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU007068

http://purl.bioontology.org/ontology/OMIM/MTHU067359

http://purl.bioontology.org/ontology/OMIM/MTHU011899

http://purl.bioontology.org/ontology/OMIM/MTHU067357

http://purl.bioontology.org/ontology/OMIM/MTHU036917

http://purl.bioontology.org/ontology/OMIM/MTHU046034

http://purl.bioontology.org/ontology/OMIM/MTHU001845

http://purl.bioontology.org/ontology/OMIM/MTHU000098

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU003124

http://purl.bioontology.org/ontology/OMIM/MTHU037110

http://purl.bioontology.org/ontology/OMIM/MTHU067355

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU067353

http://purl.bioontology.org/ontology/OMIM/MTHU000136

Phenotype description, molecular basis known.

607595

175780

3

pound

BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES

Caused by mutation in the collagen, type IV, alpha-1 gene (COL4A1, 120130.0001) [MOLECULAR BASIS]

Incomplete penetrance [MISCELLANEOUS]

Variable severity (mild symptoms to severe handicap) [MISCELLANEOUS]

Variable age of onset (range birth to 45 years) [MISCELLANEOUS]

Onset usually in childhood [MISCELLANEOUS]

A subset of patients may have congenital abnormalities of the ocular anterior segment [MISCELLANEOUS]

T047