Phenotype #0000161551

Individual ID 00213070
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset 00y05m
Diagnosis/Initial -
Age/Examination 03y (3 years)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Presentation type: acute encephalopathic crisis (HP:0006846); Symptoms: macrocephaly (HP:0000256), sudden generalized hypotonia (HP:0001290) after fever at age 05m; dystonia (HP:0001276) after second encephalopathic crisis (HP:0006846) with fever (HP:0001945) and convulsions (HP:0001250) at age 02y (for more details see full text), developmental delay (HP:0001263)
Protein -
Biochem High excretor; glutarylcarnitine: elevated
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-08 10:30:41 +01:00 (CET)
Date last edited 2019-07-31 15:18:31 +02:00 (CEST)

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