Phenotype #0000166499

Individual ID 00218050
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 09y (9 years)
Diagnosis/Definite -
Age/Diagnosis 00y06m15d
Phenotype/Onset -
Phenotype details Acute metabolic decompensation at age 06m; Outcome: Nonambulatory, feeds by G-tube (HP:0011471), nonverbal communication (HP:0001344) (current age see above); MRI(after acute decompensation): subdural hematoma, temporal lobe atrophy, widened Sylvian fissures, elevated signal intensity in basal ganglia; MRI(follow-up): volume loss in basal ganglia
Protein -
Biochem GA(urine): strongly elevated; 3-OH-GA(urine): elevated
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-17 13:59:23 +01:00 (CET)
Date last edited N/A

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