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Results 1 - 10 of 22 for Choreoathetosis
  1. Familial paroxysmal nonkinesigenic dyskinesia 
    ... a situation known as reduced penetrance. Familial paroxysmal choreoathetosis Mount-Reback syndrome Nonkinesigenic choreoathetosis Paroxysmal dystonic choreoathetosis ...
    https://medlineplus.gov/...lial-paroxysmal-nonkinesigenic-dyskinesia - Genetics
  2. Lesch-Nyhan syndrome 
    ... cannot pass X-linked traits to their sons. Choreoathetosis self-mutilation syndrome Complete HPRT deficiency Complete hypoxanthine- ... guanine phosphoribosyltransferase deficiency Hypoxanthine ... mental retardation syndrome Juvenile hyperuricemia syndrome Lesch-Nyhan ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  3. Movement - uncontrolled or slow 
    Uncontrolled or slow movement is a problem with muscle tone, usually in the large muscle groups. The problem leads to slow, uncontrollable ...
    https://medlineplus.gov/ency/article/003197.htm - Medical Encyclopedia
  4. Familial paroxysmal kinesigenic dyskinesia 
    ... the condition is known as infantile convulsions and choreoathetosis (ICCA). In families with ICCA, some individuals develop ... Episodic kinesigenic dyskinesia Familial paroxysmal dystonia Paroxysmal kinesigenic choreoathetosis Paroxysmal ... Genetic Testing Registry: Episodic kinesigenic ...
    https://medlineplus.gov/...amilial-paroxysmal-kinesigenic-dyskinesia - Genetics
  5. Brain-lung-thyroid syndrome 
    ... family. BLT syndrome Brain-thyroid-lung syndrome CAHTP Choreoathetosis, hypothyroidism, and neonatal respiratory distress Chreoathetosis and congenital ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  6. Dentatorubral-pallidoluysian atrophy 
    ... symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of ... inheritance). DRPLA Haw River syndrome Myoclonic epilepsy with choreoathetosis Naito-Oyanagi disease NOD Genetic Testing Registry: Dentatorubral- ...
    https://medlineplus.gov/.../dentatorubral-pallidoluysian-atrophy - Genetics
  7. NKX2-1 gene 
    ... A, van Landeghem F, DiLauro R, Gruters A. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2- ... NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  8. NGLY1-congenital disorder of deglycosylation 
    ... abnormalities, such as uncontrolled movements of the limbs (choreoathetosis), and some develop seizures that are difficult to ... Genetic Testing Registry: Congenital disorder of deglycosylation Alacrimia-choreoathetosis-liver dysfunction syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  9. PRRT2 gene 
    ... familial infantile seizures (BFIS) and infantile convulsions and choreoathetosis (ICCA). BFIS is characterized by recurrent seizures that ... of PRRT2 PubMed CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 PROLINE- ...
    https://medlineplus.gov/genetics/gene/prrt2 - Genetics
  10. HSD17B10 gene 
    ... by intellectual disability, uncontrollable movements of the limbs (choreoathetosis), and abnormal behavior. The mutation replaces the DNA ... RF. A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. Am ...
    https://medlineplus.gov/genetics/gene/hsd17b10 - Genetics
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