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Inherited Non-hemolytic Disorders of Hyperbilirubinemia == Disorders of Conjugation == Gilbert Syndrome: • 5-10% of the population
syndrome • An autosomal ... as jaundice on clinical ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal
Von Willebrand Disease Classification Type 1 (Accounts for ~3/4 of cases): • Defect: Quantitative defect (i.e. not
• Inheritance: Autosomal ... • Inheritance: Autosomal ... dominant (common), Autosomal ... • Inheritance: Autosomal ... Bleeding: Severe (Clinically
Ocular Flutter The video shows the presence of ocular flutter in a patient with progressive ataxia
ataxia with an autosomal ... #Friedreichs #clinical
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 Krabbe Disease Check out this interesting case of Krabbe disease, a rare genetic leukodystrophy. Diagnosis was
treatment with clinical ... • Autosomal ... cell transplant, clinical ... Diagnosis #MRI #Clinical
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
’s disease, an autosomal ... acid lipase is critical ... #clincial #peds
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
mutations • Autosomal ... OPA1) gene • Autosomal ... MRI lesions and clinical
Myoclonus-Dystonia on Physical Exam Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
alcohol & may be autosomal ... #PhysicalExam #clinical
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 Myoclonus-Dystonia on Physical Exam Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve
alcohol & may be autosomal ... #PhysicalExam #clinical
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 21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Findings Autosomal
Autosomal Dominant Inheritance - Most common mode of Mendelian inheritance - Affected individual carries the
Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant
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