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Results 11 - 20 of 22 for Cerebral calcification
  1. Osteopetrosis 
    ... some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  2. Lipoid proteinosis 
    ... presence of deposits and an accumulation of calcium (calcification) in areas of the brain called the temporal lobes. The temporal lobes help ...
    https://medlineplus.gov/genetics/condition/lipoid-proteinosis - Genetics
  3. Nakajo-Nishimura syndrome 
    ... called platelets (thrombocytopenia), and abnormal deposits of calcium (calcification) in an area of the brain called the basal ganglia. Intellectual disability has been ...
    https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome - Genetics
  4. Cerebral folate transport deficiency 
    ... Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency. Epileptic Disord. 2014 Mar;16(1):88-92. doi: 10.1684/epd.2014.0629. Citation on PubMed
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  5. Gorlin syndrome 
    ... A small proportion of affected individuals develop a brain tumor called medulloblastoma during childhood. A type of ...
    https://medlineplus.gov/genetics/condition/gorlin-syndrome - Genetics
  6. Gaucher disease 
    ... III Genetic Testing Registry: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease Gaucher disease type 1 National ... L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. ...
    https://medlineplus.gov/genetics/condition/gaucher-disease - Genetics
  7. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 
    ... Paloneva J. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. ...
    https://medlineplus.gov/...lasia-with-sclerosing-leukoencephalopathy - Genetics
  8. Hyperphosphatemic familial tumoral calcinosis 
    ... the clear front covering of the eye (corneal calcification) or angioid streaks that occur when tiny breaks ... a rare phenotype to the pathogenesis of ectopic calcification. J Invest Dermatol. 2010 Mar;130(3):652- ...
    https://medlineplus.gov/...rphosphatemic-familial-tumoral-calcinosis - Genetics
  9. TYROBP gene 
    ... Paloneva J. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. ...
    https://medlineplus.gov/genetics/gene/tyrobp - Genetics
  10. TREM2 gene 
    ... Paloneva J. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology. ...
    https://medlineplus.gov/genetics/gene/trem2 - Genetics
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