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Results 1 - 10 of 26 for Late infantile each syndrome
  1. Costeff syndrome 
    ... of an individual with an autosomal recessive condition each carry one copy of the mutated ... optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  2. CLN8 disease 
    ... mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77( ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  3. Multiple sulfatase deficiency 
    ... have split the condition into three types: neonatal, late-infantile, and juvenile.The neonatal type is the most ... neonatal multiple sulfatase deficiency worsen over time.The late-infantile type is the most common form of multiple ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  4. Galactosialidosis 
    ... live to around 6 months of age.The late infantile form of galactosialidosis shares some features with the ... K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. J Hum Genet. 2000;45( ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics
  5. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... Leukodystrophies/Specifics ... Leukodystrophies ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  6. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Muscle Disorders/Specifics ... Muscle Disorders
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  7. Leigh Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics
    https://www.ninds.nih.gov/.../mitochondrial-disorders#leigh-syndrome - External Health Links
  8. Mitochondrial DNA Depletion Syndrome (Alpers' Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Degenerative Nerve Diseases/Specifics ... Degenerative ...
    https://www.ninds.nih.gov/...s#mitochondrial-dna-depletion-syndromes - External Health Links
  9. Cryopyrin-associated periodic syndromes 
    ... NLRP3-associated autoinflammatory disease Genetic Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome Genetic Testing Registry: Familial amyloid nephropathy with urticaria ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  10. Zellweger spectrum disorder 
    ... disorders. The severe form was known as Zellweger syndrome, the intermediate form was neonatal adrenoleukodystrophy (NALD), and the mild form was infantile Refsum disease. These conditions were renamed as a ...
    https://medlineplus.gov/.../condition/zellweger-spectrum-disorder - Genetics
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