Phenotype #0000157458

Individual ID 00208850
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 11y02m
Diagnosis/Initial -
Age/Examination 11y07m (11 years, 7 months)
Diagnosis/Definite -
Age/Diagnosis 01y01m
Phenotype/Onset -
Phenotype details At diagnosis: asymptomatic; developed Rolandic epilepsy later (no antiepileptic treatment required); Latest follow-up (11y): asymptomatic;
MRI(11y): NO subependymal lesions, NO white matter changes, NO fronto-temporal hypoplasia
Protein -
Biochem GA(urine): 6mmol/mol creatinine; 3-OH-GA(urine): 24mmol/mol creatinine
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2018-12-18 16:04:41 +01:00 (CET)
Date last edited 2019-06-27 09:53:50 +02:00 (CEST)

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