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Results 1 - 10 of 20 for Neonatal hypotonia
  1. 5q31.3 microdeletion syndrome 
    ... history of the disorder in their family. Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Genetic Testing Registry: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  2. PURA syndrome 
    ... family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  3. PURA gene 
    ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. ...
    https://medlineplus.gov/genetics/gene/pura - Genetics
  4. Chromosome 5 
    ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  5. Lowe syndrome 
    ... affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  6. HSD10 disease 
    ... the neonatal type. Males with the infantile or neonatal type frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and vision loss that gradually ...
    https://medlineplus.gov/genetics/condition/hsd10-disease - Genetics
  7. MECP2-related severe neonatal encephalopathy 
    MECP2-related severe neonatal ... seizures. Infants with this condition appear normal at birth but then develop severe ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  8. 6q24-related transient neonatal diabetes mellitus 
    ... in life.Other features of 6q24-related transient neonatal diabetes mellitus that occur in ... Between 1 in 215, ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  9. Sialuria 
    ... the skin and the whites of the eyes (neonatal jaundice), an enlarged liver and ... tone (hypotonia) have also been reported.Young children with sialuria ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics
  10. Canavan disease 
    ... and promotes the efficient transmission of nerve impulses.Neonatal/infantile Canavan ... an unusually large head size (macrocephaly), and irritability. ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
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