Global Variome shared LOVD

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

Phenotype #0000167530 Individual ID 00218967 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Developmental delay (HP:0001263), cerebral palsy (HP:0100021), epilepsy (HP:0001250); MRI(age 01y): frontotemporal atrophy Protein - Biochem 3-OH-GA(urine) exessivly increased; glutarylcarnitine: increased Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-02-04 15:12:03 +01:00 (CET) Date last edited N/A

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