Disease #06888 (LDS6 (Loeys-Dietz syndrome, type 6), OMIM:619656)

Official abbreviation LDS6
Name Loeys-Dietz syndrome, type 6
OMIM ID 619656
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene SMAD2
Associated tissues -
Disease features hypertelorism (HP:0000316); no bifid uvula (-HP:0000193)/no cleft palate (-HP:0000175); ; no retrognathia (-HP:0000278); scoliosis (HP:0002650); no club foot (-HP:0001762); osteoarthritis (HP:0002758); dural ectasia (HP:0100775); pneumothorax (HP:0002107); hernia (HP:0100790); no dissection at young age; arterial tortuosity (HP:0005116)
Remarks -
Date created 2022-01-01 12:58:05 +01:00 (CET)
Date last edited 2022-01-03 17:49:45 +01:00 (CET)

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