822 results
Ocular Flutter 

The video shows the presence of ocular flutter in a patient with progressive ataxia
ataxia with an autosomal ... clinical #video #eye #ophthalmology
Retinitis Pigmentosa: Pathogenesis and Ocular Manifestations
 • Inherited mutation of rhodopsin gene -> Mode of inheritance
inheritance may be autosomal ... dominant, autosomal ... pathophysiology #ophthalmology
Central Cloudy Dystrophy of Francois (CCDF) on Slit Lamp Examination

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

Central Cloudy Dystrophy of Francois (CCDF) is
dystrophy has an autosomal ... #physicalexam #ophthalmology
Autosomal Dominant Inheritance
 - Most common mode of Mendelian inheritance 
 - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
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
Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1) 
Hereditary multiple neurofibromas. 
Autosomal dominant with high rate
Autosomal dominant
Malignant Hyperpyrexia
A rare complciation of halothane or suxamethonium.
Predisposition to developing this is inherited (autosomal dominant).

#Malignant #Hyperpyrexia
is inherited (autosomal