Phenotype #0000166552

Individual ID 00218106
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details tarting at age 04m03d: mild dystonia (HP:0001276) (present neurological status at age 08m unchanged); insertion of G-tube soon after birth for rapid calory, carnitine and riboflavin infusion when needed; several emergency visits and hospitalizations because of infectious diseases, irritability (HP:0000737) and lethargy (HP:0001254); MRI(age 04m): frontotemporal atrophy, widened Sylvian fissures
Protein -
Biochem GA(urine): 145µmol/mmol creatinine
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-22 18:05:02 +01:00 (CET)
Date last edited N/A

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