• A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. (childrensmercy.org)
  • We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. (nih.gov)
  • An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. (nih.gov)
  • A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. (nih.gov)
  • Photographed in Sylet, East Pakistan, this female patient resented with numerous cutaneous nodules on her back having been afflicted with the genetic disorder known as neurofibromatosis, or the eponym, Von Recklinghausen's disease. (cdc.gov)
  • Bassen-Kornzweig disease, also called Bassen-Kornzweig Syndrome, is a rare congenital disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL). (wikipedia.org)
  • Frank A. Bassen M.D. "Retinitis Pigmentosa, Acanthocytosis, and Heredodegenerative Neuromuscular Disease. (wikipedia.org)
  • This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. (uchicago.edu)
  • Bassen-Kornzweig disease, also called Bassen-Kornzweig Syndrome, is a rare congenital disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL). (wikipedia.org)
  • Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. (mcw.edu)
  • This is one of a group of disorders caused by mutations in the serpins that are collectively known as the serpinopathies. (ox.ac.uk)