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46 results

  1. GM2 Activator Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK583219
    ... 6 mos Seizures Coarse features, skeletal disease GALC Krabbe disease ≤6 mos Seizures Leukodystrophy, peripheral neuropathy, irritability GBA1 ( ...
  2. Sandhoff Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK579484
    ... 6 mos Seizures Coarse features & skeletal disease GALC Krabbe disease ≤6 mos Seizures Leukodystrophy, peripheral neuropathy, & irritability GBA1 ( ...
  3. HEXA Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1218
    ... Seizures Hepatosplenomegaly w/coarse features & skeletal disease GALC Krabbe disease – ≤6 mos Seizures Leukodystrophy, peripheral neuropathy, irritability GBA1 ( ...
  4. Berardinelli-Seip Congenital Lipodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1212
    ... Neurometabolic lysosomal storage disorders: Gaucher disease type 2 , Krabbe disease Russell diencephalic syndrome Leprechaunism: Donohue syndrome (See INSR - ...
  5. Mitochondrial Neurogastrointestinal Encephalopathy Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1179
    ... connexin 46.6) pathogenic variants, PLP1 -related disorders , Krabbe disease , Alexander disease , Canavan disease , congenital muscular dystrophy with ...
  6. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1372
    ... spasticity Thin CC in some affected persons GALC Krabbe disease (GALC deficiency, globoid cell leukodystrophy) Infantile form presents ...
  7. Newborn Screening 
    https://medlineplus.gov/newbornscreening.html
    Your newborn infant has screening tests before leaving the hospital. Get the facts about these tests and what you should expect. ... Your newborn infant has screening ...
  8. Multiple Sulfatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538937
    ... joint mobility issues may be seen in MSD) Krabbe disease GALC AR Central & peripheral demyelination, progressive neurologic deterioration ...
  9. Opisthotonos 
    https://medlineplus.gov/ency/article/003195.htm
    ... families, such as glutaric aciduria and organic acidemias, Krabbe disease , maple syrup urine disease , and others Seizures Severe ...
  10. Alexander Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1172
    ... w/o frontal predominance; sparing of putamen GALC Krabbe disease 1 Early feeding difficulties, hypotonia, & irritability Developmental regression & ...
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