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 23 for Neonatal onset
  1. Ornithine transcarbamylase deficiency 
    ... in the first few days of life. This neonatal-onset form of the disorder usually affects males; it ... very rare in females. An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking ...
    https://medlineplus.gov/.../ornithine-transcarbamylase-deficiency - Genetics
  2. Citrullinemia 
    ... NICCD). This liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of ... DEFICIENCY, ADOLESCENT OR ADULT ONSET; CDAA CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; CDNI PubMed Faghfoury H, Baruteau J, de Baulny ...
    https://medlineplus.gov/genetics/condition/citrullinemia - Genetics
  3. MECP2-related severe neonatal encephalopathy 
    ... due to MECP2 mutations Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly National Organization for Rare Disorders (NORD) ClinicalTrials.gov ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS PubMed Bianciardi L, ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  4. 2-hydroxyglutaric aciduria 
    ... D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  5. Carbamoyl phosphate synthetase I deficiency 
    ... synthetase 1 and novel mutations in patients with neonatal onset. Hum Mutat. 2003 Apr;21(4):444. doi: ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
  6. Succinyl-CoA:3-ketoacid CoA transferase deficiency 
    ... K, Sakaguchi N, Kondo N, Hasegawa T. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient ...
    https://medlineplus.gov/...-coa3-ketoacid-coa-transferase-deficiency - Genetics
  7. Cryopyrin-associated periodic syndromes 
    ... type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  8. 6q24-related transient neonatal diabetes mellitus 
    ... NEONATAL, 1; TNDM1 PubMed Barbetti F. Diagnosis of neonatal and infancy-onset diabetes. Endocr Dev. 2007;11:83-93. doi: 10.1159/000111060. Citation on PubMed Diatloff-Zito C, Nicole A, ... with transient neonatal diabetes: new hypothesis raised by the finding of ...
    https://medlineplus.gov/...ated-transient-neonatal-diabetes-mellitus - Genetics
  9. Myoclonic epilepsy with ragged-red fibers 
    ... in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics. 2012 Aug;13(3):245-50. doi: ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  10. Episodic ataxia 
    ... Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol. 2016 Feb;263(2): ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
previous · 1 · 2 · 3 · next