Global Variome shared LOVD

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

Phenotype #0000157440 Individual ID 00208829 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 00y06m Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y06m Phenotype/Onset - Phenotype details Severe to profound developmental delay (HP:0011344, HP:0012736) and regression (HP:0002376): loss of intentional motor control, Precipitating illness: fever (HP:0001945), seizures; Symptoms: macrocephaly (HP:0000256);dystonia (HP:0001276), severe feeding difficulties with malnourishment; Neuroimaging: hyperintensities in caudate and putamen Protein - Biochem GA(urine) & metabolites: elevated; glutarylcarnitine: elevated Enzyme/Activity - Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-12-17 13:10:16 +01:00 (CET) Date last edited N/A

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