What is the most common genetic cause of intellectual disability (mental retardation)?
Characteristic clinical findings in **Phenylketonuria** include a _____ odor, hypopigmentation (fair skin/blue eyes), and intellectual disability.

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency may present in infancy or early childhood with _____, hyperammonemia, lethargy, seizures, coma, and liver dysfunction
Van der Hoeve syndrome consist of the triad of _____, Otosclerosis and Blue sclera
Zellweger Syndrome is an _____ leukodystrophy caused by defective peroxisome biogenesis
Hint: inheritance
Systemic manifestations of Hallerman Streiff syndrome is _____ malformation, Hypoplastic mandible, Short stature and Skin atrophy
The majority of cases of _____ syndrome are caused by de novo mutations in meCP2
Type II tyrosinemia will present with features such as _____ and palmoplantar keratoderma/plaques
The abnormality of _____ syndrome is arterio-hepatic dysplasia
_____ syndrome is due to a mutation in the WASp gene
Chromosomal Disorders
Flashcards
Disorders of Amino Acid Metabolism
Flashcards
Disorders of Carbohydrate Metabolism
Flashcards
Disorders of Lipid Metabolism
Flashcards
Genetic Counseling
Flashcards
Genetic Testing in Pediatrics
Flashcards
Inborn Errors of Metabolism
Flashcards
Lysosomal Storage Diseases
Flashcards
Mitochondrial Disorders
Flashcards
Multifactorial Inheritance Disorders
Flashcards
Newborn Screening
Flashcards
Single Gene Disorders
Flashcards
These Genetic and Metabolic Disorders flashcards are designed for USMLE Psychiatry preparation, using active recall to help you retain high-yield concepts, clinical correlations, and commonly tested facts. Each card prompts you to retrieve information from memory rather than passively reviewing notes, which research shows leads to significantly better exam performance.
The 109 cards in this deck cover the most important topics in Genetic and Metabolic Disorders, including key mechanisms, diagnostic criteria, treatment protocols, and clinical pearls that frequently appear in USMLE examinations. Cards are organised by chapter so you can focus on specific areas or work through the entire topic systematically.
For personalised spaced repetition scheduling that adapts to your performance, unlimited flashcards, and detailed progress analytics, download the Oncourse app.
Get full access to all flashcards, spaced repetition, and progress tracking.
Scan to download app