Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000155426 Individual ID 00207615 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 16y (16 years) Diagnosis/Definite - Age/Diagnosis 00y07m Phenotype/Onset - Phenotype details Severly affected; Cause of consultation: Seizures (HP:0001250), vomiting (HP:0002013); 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 0.5 pmol/mg/protein/min (skin fibroblasts) (= 2% of normal mean value) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-26 17:05:39 +01:00 (CET) Date last edited 2019-04-05 11:30:48 +02:00 (CEST)

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