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  • MELAS

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    CLINICAL CHARACTERISTICS MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with onset...
  • Hypertrophic Cardiomyopathy Overview

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    CLINICAL CHARACTERISTICS Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH)....
  • Chorea-Acanthocytosis

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    CLINICAL CHARACTERISTICS Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy...
  • Charcot-Marie-Tooth Neuropathy Type 4J

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    CLINICAL CHARACTERISTICS Charcot-Marie-Tooth neuropathy type 4J (CMT4J) is a peripheral neuropathy characterized by childhood onset (manifest as...
  • Charcot-Marie-Tooth Neuropathy Type 2A

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    CLINICAL CHARACTERISTICS Charcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy...
  • Genetic Prion Diseases

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    CLINICAL CHARACTERISTICS Genetic prion diseases generally manifest with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of...
  • Kabuki Syndrome

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    CLINICAL CHARACTERISTICS Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral...
  • Achondrogenesis Type 1B

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    CLINICAL CHARACTERISTICS Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of
  • Neuronal Ceroid-Lipofuscinoses

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    CLINICAL CHARACTERISTICS The neuronal ceroid-lipofuscinoses (NCLs) are a group of inherited, neurodegenerative, lysosomal storage disorders...
  • Junctional Epidermolysis Bullosa

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    CLINICAL CHARACTERISTICS Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering
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