Disease #00887

Official abbreviation -
Name Vasculopathy, retinal, with cerebral leukodystrophy
OMIM ID 192315
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene TREX1
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Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00112367 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - Vasculopathy, retinal, with cerebral leukodystrophy retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 5 Boukje de Vries
00112368 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - Vasculopathy, retinal, with cerebral leukodystrophy retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112370 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - Vasculopathy, retinal, with cerebral leukodystrophy retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112372 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - Vasculopathy, retinal, with cerebral leukodystrophy retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112373 - PubMed: Richards 2007 heterozygous mutation - - - - - 0 - - Vasculopathy, retinal, with cerebral leukodystrophy retinal vasculopathy with cerebral leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
00112379 - PubMed: Gruver 2011 heterozygous mutation - - - - - 0 - - Vasculopathy, retinal, with cerebral leukodystrophy Retinal Vasculopathy with Cerebral Leukodystrophy TREX1 TREX1 1 1 Boukje de Vries
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