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Results 11 - 20 of 23 for Neonatal onset
  1. Maturity-onset diabetes of the young 
    ... on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009 Nov; ...
    https://medlineplus.gov/.../maturity-onset-diabetes-of-the-young - Genetics
  2. Permanent neonatal diabetes mellitus 
    ... on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009 Nov; ...
    https://medlineplus.gov/.../permanent-neonatal-diabetes-mellitus - Genetics
  3. N-acetylglutamate synthase deficiency 
    ... the N-acetylglutamate synthase gene associated with acute neonatal disease and ... onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. ...
    https://medlineplus.gov/.../n-acetylglutamate-synthase-deficiency - Genetics
  4. Pyridoxal phosphate-responsive seizures 
    ... dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed. 2008 ... in early-onset epileptic encephalopathy. J Inherit Metab Dis. 2007 Feb; ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  5. Alexander disease 
    ... spasticity), intellectual disability, and developmental delay. Less frequently, ... Rarely, a neonatal form of Alexander disease occurs within the first ...
    https://medlineplus.gov/genetics/condition/alexander-disease - Genetics
  6. Cold-induced sweating syndrome 
    ... a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis ... tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  7. Hereditary hemochromatosis 
    ... which are classified depending on the age of onset and other factors such as genetic cause and ... Type 2 hemochromatosis is known as a juvenile-onset disorder because symptoms often begin in childhood. By ...
    https://medlineplus.gov/.../condition/hereditary-hemochromatosis - Genetics
  8. Canavan disease 
    ... and promotes the efficient transmission of nerve impulses.Neonatal/infantile Canavan disease is the most common and ... with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  9. Bartter syndrome 
    ... TYPE 2, ANTENATAL; BARTS2 BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A BARTTER SYNDROME, TYPE 3; BARTS3 BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B PubMed Hebert SC. Bartter ...
    https://medlineplus.gov/genetics/condition/bartter-syndrome - Genetics
  10. Marfan syndrome 
    ... Bromme D, Bartels R, Reinhardt DP. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
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