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  • Aceruloplasminemia

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    CLINICAL CHARACTERISTICS Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. The clinical triad of retinal degeneration
  • Mucopolysaccharidosis Type II

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    CLINICAL CHARACTERISTICS Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by...
  • Treacher Collins Syndrome

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    CLINICAL CHARACTERISTICS Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia
  • Hereditary Ataxia Overview

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    CLINICAL CHARACTERISTICS The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often...
  • KCNQ2-Related Disorders

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    CLINICAL CHARACTERISTICS KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes caused by a heterozygous...
  • KCNT1-Related Epilepsy

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    CLINICAL CHARACTERISTICS KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures...
  • Asparagine Synthetase Deficiency

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    CLINICAL CHARACTERISTICS Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and
  • Esophageal Atresia/Tracheoesophageal Fistula Overview

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    The purpose of this overview is to increase the awareness of clinicians regarding esophageal atresia / tracheoesophageal fistula and its genetic...
  • Achromatopsia

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    CLINICAL CHARACTERISTICS Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a...
  • 16p12.2 Recurrent Deletion

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    CLINICAL CHARACTERISTICS 16p12.2 recurrent deletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. Of...
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