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Results 21 - 30 of 41 for Infantile onset
  1. Alexander disease 
    ... the infantile form. Signs and symptoms of the infantile form typically ... Less frequently, onset occurs later in childhood (the juvenile form) or ...
    https://medlineplus.gov/genetics/condition/alexander-disease - Genetics
  2. GM2 activator deficiency 
    ... infantile form of this disorder. Infants with acute infantile GM2 activator deficiency may ... GM2 activator ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  3. Cystinosis 
    ... CYSTINOSIS, ADULT NONNEPHROPATHIC CYSTINOSIS, NEPHROPATHIC; CTNS CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PubMed Delgado G, Schatz A, Nichols S, Appelbaum M, Trauner D. Behavioral profiles of children with infantile nephropathic cystinosis. Dev Med Child Neurol. 2005 Jun; ...
    https://medlineplus.gov/genetics/condition/cystinosis - Genetics
  4. CLN2 disease 
    ... Neuronal ceroid lipofuscinosis 2 Genetic Testing Registry: Late-infantile neuronal ceroid lipofuscinosis Genetic Testing ... Druga R, Poupetova H, Kostalova E, Mikulastik J. Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different ...
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  5. Glycogen storage disease type VII 
    ... indicator of muscle disease.Infants with the severe infantile form of GSDVII ... of life.In the late-onset form of GSDVII, myopathy is typically the only ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-vii - Genetics
  6. Developmental and epileptic encephalopathy 1 
    ... genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. J Child Neurol. 2011 Jun;26(6):683-91. doi: 10.1177/0883073810387827. Epub 2011 Apr 11. Citation on PubMed
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  7. Familial paroxysmal kinesigenic dyskinesia 
    ... Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and ... paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. Dev ...
    https://medlineplus.gov/...amilial-paroxysmal-kinesigenic-dyskinesia - Genetics
  8. CLN1 disease 
    ... show signs and symptoms of the condition. CLN1 Infantile Batten disease Infantile neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 1 Neuronal ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  9. CDKL5 deficiency disorder 
    ... Cyclin-dependent kinase-like 5 deficiency disorder Early infantile epileptic encephalopathy 2 Genetic Testing Registry: Developmental and ... is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet. 2013 Mar;21( ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  10. Caffey disease 
    Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Excessive new bone formation (hyperostosis) is characteristic of ...
    https://medlineplus.gov/genetics/condition/caffey-disease - Genetics
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