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Results 1 - 10 of 29 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. Hypotonia 
    ... movement involve the brain, spinal cord, nerves, and muscles. Hypotonia may be a sign of a problem anywhere ...
    https://medlineplus.gov/ency/article/003298.htm - Medical Encyclopedia
  7. Down Syndrome (For Parents) (Nemours Foundation)  
    ... genetic material, chromosomal abnormalities, karyotype, low muscle tone, muscle hypotonia, flat facial profiles, depressed nasal bridge, small nose, upward slant to the eyes, oblique palpebral fissures, dysplastic ears, ... neonatology, cd1genetic disorders, CD1Genetic Disorders, CD1Down Syndrome
    https://kidshealth.org/en/parents/down-syndrome.html - External Health Links
  8. Congenital Central Hypoventilation Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Autonomic Nervous System Disorders/Specifics ... Autonomic Nervous System Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes ...
    https://rarediseases.info.nih.gov/...entral-hypoventilation-syndrome - External Health Links
  9. 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
  10. 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
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