Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 16 for Neonatal onset
  1. CAV1 gene 
    ... the CAV1 gene have been found to cause neonatal-onset generalized lipodystrophy syndrome. The signs and symptoms of ... novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. 2015 ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  2. SLC25A13 gene 
    ... NICCD). This liver disorder is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of ... FAMILY 25 (CITRIN), MEMBER 13; SLC25A13 CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; CDNI NCBI Gene ClinVar Kobayashi K, Bang Lu ...
    https://medlineplus.gov/genetics/gene/slc25a13 - Genetics
  3. CPS1 gene 
    ... synthetase 1 and novel mutations in patients with neonatal onset. Hum Mutat. 2003 Apr;21(4):444. doi: 10.1002/humu.9118. Citation on PubMed Pearson DL, Dawling S, Walsh ... pulmonary hypertension--urea-cycle intermediates, nitric oxide production, ...
    https://medlineplus.gov/genetics/gene/cps1 - Genetics
  4. NLRP3 gene 
    ... type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  5. CACNA1C gene 
    ... Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. Am ...
    https://medlineplus.gov/genetics/gene/cacna1c - Genetics
  6. DNM2 gene 
    ... Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol. 2007 Dec;62(6):666-70. ...
    https://medlineplus.gov/genetics/gene/dnm2 - Genetics
  7. OXCT1 gene 
    ... K, Sakaguchi N, Kondo N, Hasegawa T. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient ...
    https://medlineplus.gov/genetics/gene/oxct1 - Genetics
  8. GCK gene 
    ... 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/genetics/gene/gck - Genetics
  9. ABCC8 gene 
    ... of life.ABCC8 gene mutations that cause permanent neonatal diabetes mellitus change ... information about Maturity-onset diabetes of the young More About This Health ...
    https://medlineplus.gov/genetics/gene/abcc8 - Genetics
  10. KCNJ11 gene 
    ... of life.KCNJ11 gene mutations that cause permanent neonatal diabetes mellitus change ... information about Maturity-onset diabetes of the young More About This Health ...
    https://medlineplus.gov/genetics/gene/kcnj11 - Genetics
previous · 1 · 2 · next