Global Variome shared LOVD

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

Phenotype #0000155437 Individual ID 00207648 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 03y (3 years) Diagnosis/Definite - Age/Diagnosis 00y04m15d Phenotype/Onset - Phenotype details Severly affected; Cause of consultation: Encephalopathic episode (HP:0006846), vomiting (HP:0002013), diarrhea (HP:0002014); Additional symptoms: Macrocephaly (HP:0000256), seizures (HP:0001250), 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 Undetectable (skin fibroblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-26 18:12:10 +01:00 (CET) Date last edited N/A

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