Phenotype #0000000534

Individual ID 00001102
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Symptoms: extrapyramidal signs, macrocephaly; Neuroimaging: radiological changes in the caudate and putamen
Protein -
Biochem GA(urine), 3-OH-GA(urine) & glutaconic acids(urine): excessive amounts
Enzyme/Activity -
Owner name Katrin Hinderhofer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-04-17 17:21:21 +02:00 (CEST)
Date last edited 2019-05-24 11:40:49 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.