Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000223062 Individual ID 00295492 Associated disease - Phenotype details she had several episodes of infections, diarrhea, metabolic acidosi; and the result of MS/MS showed increased of acylcarnitine profile revealed and increased C3-acylcarnitin, C3/C2 and C3/C0 acylcarnitine ratio. She is now five years old with moderate mental retardation. In the past few years, she has been admitted to the hospital several times due to episodes of infections,diarrhea, metabolic acidosis and generalized tonic-clonic seizures. She also had poor weight gain (6th percentile). Her recent heart assessment is normal. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Yangqi Database submission license No license selected Created by Yangqi Date created 2020-03-12 09:58:59 +01:00 (CET) Date last edited 2020-04-03 12:15:10 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.