Mitochondrial Disorders — Flashcards

What is the mode of inheritence of Imerslund-Grasbeck syndrome?_____

WAGR syndrome is a combination of: 1. _____ 2. Aniridia (absence of iris) 3. Genital abnormalities 4. mental or motor Retardation

Alagille syndrome is associated with mutations in _____ gene in 90% of patients

What is the mode of diagnosis of Duchenne muscular dystrophy?_____

Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____

_____ disease is also known as infantile cortical hyperostosis.

What is the most common cause of genetic mental retardation?

Characteristic clinical findings in Phenylketonuria: No answer _____

The majority of cases of _____ syndrome are caused by de novo mutations in meCP2

The abnormality of _____ syndrome is arterio-hepatic dysplasia