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Results 31 - 40 of 41 for Infantile onset
  1. SCN8A-related epilepsy with encephalopathy 
    ... involuntary muscle contractions that occur before age 1 (infantile spasms), partial or complete loss of consciousness (absence ... history of the disorder in their family. Early infantile epileptic encephalopathy 13 EIEE13 SCN8A encephalopathy Genetic Testing ...
    https://medlineplus.gov/...cn8a-related-epilepsy-with-encephalopathy - Genetics
  2. Spinal muscular atrophy 
    ... same genes. The types differ in age of onset and severity of muscle weakness; ... infantile spinal muscular atrophy, and spinal muscular atrophy with ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  3. Aicardi-Goutières syndrome 
    ... Cree encephalitis Encephalopathy with basal ganglia calcification Familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  4. SLC35A2-congenital disorder of glycosylation 
    ... months of life, usually involving uncontrollable muscle stiffening (infantile spasms) that can switch to shorter episodes of ... of glycosylation, type IIm EIEE22 Epileptic encephalopathy, early infantile, 22 SLC35A2-CDG Genetic Testing Registry: SLC35A2-congenital ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  5. CLN5 disease 
    ... and symptoms of the condition. Finnish variant late infantile neuronal ceroid lipofuscinosis Finnish vLINCL Jansky-Bielschowsky disease Late-infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Neuronal ...
    https://medlineplus.gov/genetics/condition/cln5-disease - Genetics
  6. Canavan disease 
    ... promotes the efficient transmission of nerve impulses.Neonatal/infantile Canavan disease is the most common and most ... Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  7. Nemaline myopathy 
    ... 2; NEM2 NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; NEM5A NEMALINE MYOPATHY 7; NEM7 NEMALINE MYOPATHY 6; ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  8. CLN6 disease 
    ... lipofuscinosis linked to CLN6, mutated in variant late-infantile form. Clin Genet. 2011 Dec;80(6):505- ... N, Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. ...
    https://medlineplus.gov/genetics/condition/cln6-disease - Genetics
  9. Cryopyrin-associated periodic syndromes 
    ... NLRP3-associated autoinflammatory disease Genetic Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome Genetic Testing Registry: ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  10. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome 
    ... inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006 May; ...
    https://medlineplus.gov/...bral-mitochondrial-dna-depletion-syndrome - Genetics
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