Global Variome shared LOVD

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

Phenotype #0000000543 Individual ID 00001111 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details Macrocephaly (HP:0000256), NO movement disorder, average IQ; At latest follow-up (age 24y): asymptomatic; MRI: characteristically wide anterior temporal and sylvian CSF spaces and atrophy (cerebellum most affected), white matter abnormalities with involvement of the median corpus callosum Protein - Biochem GA(urine): >2000mmol/mol creatinine; 3-OH-GA(urine): 50mmol/mol creatinine Enzyme/Activity Residual activity: 0% Owner name Katrin Hinderhofer Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2013-04-17 17:21:21 +02:00 (CEST) Date last edited 2018-12-18 12:37:59 +01:00 (CET)

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