2125 results
Ocular Flutter 

The video shows the presence of ocular flutter in a patient with progressive ataxia
Flutter The video ... ataxia with an autosomal ... Friedreichs #clinical #video
Myoclonus-Dystonia on Physical Exam

Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
alcohol & may be autosomal ... PhysicalExam #clinical #video
Myoclonus-Dystonia on Physical Exam

Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
alcohol & may be autosomal ... PhysicalExam #clinical #video
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
Bilateral Foot Drop secondary to Nonaka Myopathy

48 yr old lady, difficulty in climbing stairs x 8
- Heterozygous Autosomal ... Myopathy #clinical #video
Central Cloudy Dystrophy of Francois (CCDF) on Slit Lamp Examination

Central Cloudy Dystrophy of Francois (CCDF) is
dystrophy has an autosomal ... Francois #clinical #video
Central Cloudy Dystrophy of Francois (CCDF) on Slit Lamp Examination

Central Cloudy Dystrophy of Francois (CCDF) is
dystrophy has an autosomal ... Francois #clinical #video
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-
fibrillin function - Autosomal
Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown
Genetically determined: Autosomal ... dominant, Autosomal
Inherited Non-hemolytic Disorders of Hyperbilirubinemia 

== Disorders of Conjugation ==
Gilbert Syndrome:
 • 5-10% of the population
syndrome • An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal ... Dubin-Johnson: • Autosomal