Fechtner Syndrome
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. [ ]
Term info
Fechtner Syndrome
- Fechtner Syndrome
NCIT_C90259, NCIT_C132009
An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene.
NICHD
http://purl.obolibrary.org/obo/NCIT_C28193, http://purl.obolibrary.org/obo/NCIT_C131634
Fechtner Syndrome
Fechtner Syndrome
Disease or Syndrome
C0403445
C131642