Disease #00887 (RVCL (vasculopathy, retinal, with cerebral leukodystrophy (RVCL)), OMIM:192315)

Official abbreviation RVCL
Name vasculopathy, retinal, with cerebral leukodystrophy (RVCL)
OMIM ID 192315
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene TREX1
Associated tissues -
Disease features -
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00112367 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - RVCL retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 5 Boukje de Vries
00112368 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - RVCL retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112370 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - RVCL retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112372 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - RVCL retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112373 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - RVCL retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112379 - PubMed: Gruver 2011 heterozygous mutation - - - - - 0 - - RVCL Retinal Vasculopathy with Cerebral Leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00320006 171633 - - M ? Germany - - 0 - - RVCL Cerebral microangiopathy; unclear WML and suspected migraine headache DD CADASIL TREX1 TREX1 1 1 Andreas Laner
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