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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