Fechtner syndrome

Also known as: MYH9-related disease

MYH9 disorder with Döhle-like inclusions, nephritis, deafness and cataracts.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: MYH9

Etiology & mechanism

MYH9 variants.

Gene(s) involved (1)

MYH9

Symptoms & signs (5)

cataractsdeafnessleukocyte inclusionsmacrothrombocytopenianephritis

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.