Search results for FBN1

Gene symbol Genotype Mutation consequence Disease Panels Go to page
FBN1 biallelic_autosomal altered gene product structure Marfan Syndrome, biallelic DD
FBN1 monoallelic_autosomal absent gene product MARFAN SYNDROME DD
FBN1 monoallelic_autosomal altered gene product structure WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT DD
FBN1 monoallelic_autosomal altered gene product structure SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME DD,Skin
FBN1 biallelic_autosomal absent gene product MARFAN SYNDROME (biallelic, loss of function) Eye
FBN1 monoallelic_autosomal absent gene product WEILL-MARCHESANI SYNDROME 2 Eye
FBN1 monoallelic_autosomal altered gene product structure MARFAN SYNDROME Eye
FBN1 monoallelic_autosomal altered gene product structure ISOLATED ECTOPIA LENTIS Eye,Skin
FBN1 biallelic_autosomal absent gene product MARFAN SYNDROME Skin
FBN1 monoallelic_autosomal absent gene product WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT Skin