Phenotype #0000167998

Individual ID 00222817
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y05m
Diagnosis/Initial -
Age/Examination 15y02m15d (15 years, 2 months, 15 days)
Diagnosis/Definite -
Age/Diagnosis 00y00m10d
Phenotype/Onset Acute onset: acute encephalopathic crisis (HP:0006846)
Phenotype details Severe movement disorder, dystonia (HP:0001276), spasticity (HP:0001257), ataxia (HP:0001251), minor motor symptoms
Protein -
Biochem High excretor
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-02-12 09:19:50 +01:00 (CET)
Date last edited N/A

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.