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Results 11 - 20 of 41 for Infantile onset
  1. Otulipenia 
    ... Registry: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive Infantile-onset periodic fever-panniculitis-dermatosis syndrome National Organization for ...
    https://medlineplus.gov/genetics/condition/otulipenia - Genetics
  2. Tay-Sachs disease 
    ... of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  3. Myoclonic epilepsy with ragged-red fibers 
    ... tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics. 2012 Aug;13(3):245-50. doi: ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  4. Early-onset glaucoma 
    Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction ...
    https://medlineplus.gov/genetics/condition/early-onset-glaucoma - Genetics
  5. CLN7 disease 
    ... Nahavandi N, Craiu M, Iliescu C. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. Eur J Paediatr Neurol. 2015 Jan;19( ...
    https://medlineplus.gov/genetics/condition/cln7-disease - Genetics
  6. Holocarboxylase synthetase deficiency 
    ... Early-onset biotin-responsive multiple carboxylase deficiency Early-onset combined carboxylase deficiency HLCS deficiency Infantile multiple carboxylase deficiency Genetic Testing Registry: Holocarboxylase synthetase ...
    https://medlineplus.gov/.../holocarboxylase-synthetase-deficiency - Genetics
  7. STXBP1 encephalopathy 
    ... 4 Developmental and epileptic encephalopathy, type 4 Early-infantile epileptic encephalopathy 4 ... Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  8. Metachromatic leukodystrophy 
    ... the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood.In 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. ...
    https://medlineplus.gov/.../condition/metachromatic-leukodystrophy - Genetics
  9. Ornithine translocase deficiency 
    ... first appearing anytime from childhood to adulthood. Later-onset forms of ornithine translocase deficiency are usually less severe than the infantile form.Infants with ornithine translocase deficiency may lack ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  10. Krabbe disease 
    ... the severity of the condition, individuals with the infantile form of Krabbe disease rarely survive beyond the age of 2.Less commonly, Krabbe disease begins in childhood, adolescence, or adulthood (late-onset forms). Vision problems and walking difficulties are the ...
    https://medlineplus.gov/genetics/condition/krabbe-disease - Genetics
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