Phenotype #0000157439

Individual ID 00208828
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y06m
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis 03y
Phenotype/Onset -
Phenotype details Severe to profound developmental delay (HP:0011344, HP:0012736) and regression (HP:0002376): loss of intentional motor control, Precipitating event: injection (immunization); Symtpoms: dystonia (HP:0001276); Neuroimaging:Temporal hypoplasia/ frontotemporal atrophy, wide temporal and Sylvian CSF spaces, hyperintensities in thalamus, hyperintensities in 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 13:05:56 +01:00 (CET)
Date last edited N/A

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