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Results 61 - 70 of 79 for Ataxia -telangiectasia variant
  1. CLPB deficiency 
    ... have movement abnormalities, such as difficulty coordinating movements (ataxia), involuntary tensing of the muscles (dystonia), or uncontrolled ... E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  2. HPD gene 
    ... and periodic loss of balance and coordination (intermittent ataxia). Some of the mutations that cause this condition ... inhibition studies of a causative Asn to Ser variant of 4-hydroxyphenylpyruvate dioxygenase suggest a simple route ...
    https://medlineplus.gov/genetics/gene/hpd - Genetics
  3. Sepiapterin reductase deficiency 
    ... stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). People with sepiapterin ... A splicing defect accounts for a new phenotypic variant. Neurogenetics. 2011 Aug;12(3):183-91. doi: ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  4. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... experience muscle stiffness (spasticity) and difficulty coordinating movements (ataxia). Walking ability varies greatly among those affected. Some ... leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Hum Mutat. 2006 Mar;27(3): ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  5. 19p13.13 deletion syndrome 
    ... tone (hypotonia) and problems with coordinating muscle movement (ataxia) contribute to delays in gross motor skills (such ... deletion encompassing NFIX gene and novel NFIX sequence variant. Biomed Pap Med Fac Univ Palacky Olomouc Czech ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  6. Charcot-Marie-Tooth disease 
    ... X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, ... Kanda T, Okamoto Y, Takashima H. Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  7. CLN5 disease 
    ... uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, speech problems, and a decline in ... show signs and symptoms of the condition. Finnish variant late infantile neuronal ceroid lipofuscinosis Finnish vLINCL Jansky- ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  8. What Causes Rett Syndrome? From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Rett Syndrome/Genetics ... Rett Syndrome ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... From the National Institutes of Health
    https://www.nichd.nih.gov/health/topics/rett/conditioninfo/causes - External Health Links
  9. Usher Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Find symptoms and other information about Usher syndrome. ... Usher Syndrome/Learn More ... Usher Syndrome ... Genetic and Rare Diseases Information Center ... From the National ...
    https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome - External Health Links
  10. Giant Cell Arteritis From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Giant Cell Arteritis/Specifics ... Giant Cell Arteritis ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and ...
    https://rarediseases.info.nih.gov/diseases/9615/giant-cell-arteritis - External Health Links
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