Genetic and Metabolic Disorders — Flashcards

Laurence-Moon-Bardet-Biedl syndrome is characterised by polydactyly, obesity, retinitis pigmentosa, male _____gonadism, hypertension and mental retardation.

Propionic acidemia presents with poor feeding, _____, hypotonia, anion gap metabolic acidosis, hepatomegaly and seizures

What is the mode of inheritance of acrodermatitis enteropathica?

Deficiency of P450 oxidoreductase (POR) results in congenital anomalies collectively referred to as _____ syndrome.

What is the age of presentation of Wolfram syndrome?_____

Triangular facies, relative macrocephaly, and 5th finger clinodactyly are indicative of which syndrome?

_____ or more lisch nodules are used to confirm the diagnosis of neurofibromatosis

Which disease is characterized by an inability to eliminate Epstein-Barr virus (EBV), eventually leading to fulminant infectious mononucleosis and the development of B-cell tumors?_____

Genetic testing for evidence of _____ mutations is positive in a large majority of neonates with benign familial neonatal (focal-clonic) seizures

What is the mode of inheritance of Joubert syndrome?