Bonnemann-Meinecke-Reich syndrome

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Bonnemann-Meinecke-Reich syndrome
ICD-10 G31.8
OMIM 225755

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List of terms related to Bonnemann-Meinecke-Reich syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Encephalopathy - intracerebral calcification - retinal degeneration

Overview

Bonnemann-Meinecke-Reich syndrome is a very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the retina.

Pathophysiology

Genetics

Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. [1]

Epidemiology and Demography

Prevalence of this disease is less than 1 per million.[1] This syndrome has been described in only two families, with each family containing two affected sibs. [2]

References

  1. 1.0 1.1 "Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal".
  2. "Orphanet: Bonnemann Meinecke Reich syndrome".

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