Global Variome shared LOVD

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

Phenotype #0000000574 Individual ID 00001142 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination 03y01m (3 years, 1 month) Diagnosis/Definite - Age/Diagnosis - Phenotype/Onset - Phenotype details developmental delay, large head size, hearing impairment, loss of motor skills, MRI: asymmetric subdural fluid collection, suggesting hemorrhage with a mild mass effect Protein - Biochem 3-OH-GA(urine): 12.1 mmol/mol creatinine (c: <4.2); GA(urine): 73.75 mmol/mol creatinine (c: <5.3)) Enzyme/Activity - 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 2013-11-20 16:05:02 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.