Phenotype #0000155438

Individual ID 00207649
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 03y (3 years)
Diagnosis/Definite -
Age/Diagnosis 01y06m
Phenotype/Onset -
Phenotype details Mildly affected; Cause of consultation: Hypoglycemia (HP 0001943), vomiting (HP:0002013), lethargy (HP:0001254); Additional symptoms: Macrocephaly (HP:0000256), hypotonia (HP:0001252), dystonia (HP:0001276); Neuroimaging: Typical (= temporal hypoplasia, dilated external CSF spaces)
Protein -
Biochem GA(urine) & 3-OH-GA(urine): Strongly raised; glutarylcarnitine (blood): Elevated
Enzyme/Activity Not determined
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2018-11-26 18:18:50 +01:00 (CET)
Date last edited N/A

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