Global Variome shared LOVD

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

Phenotype #0000171430 Individual ID 00226305 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset 05y Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 01y06m Phenotype/Onset - Phenotype details Mildly affected; Development: began to sit at age 08m, began to walk at age 01y10m; At age 05y: slight motoric clumsiness with predominance on left side; At age 06y: choreoathetotic movements during arm extension without inhibition of normal activity, At age 09y: total IQ 92; At age 11y: visits normal school, no limitations due to mild motor disorder, head circumference + 3 SD; CT(at age 01y06m) & MRI(age 11y): multiple arachnoid cysts (for more details see full text) Protein - Biochem A(urine): 2782 µg/g creatinine; carnitine(serum): 4.5 µg/ml Enzyme/Activity undetectable Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2019-03-07 10:38:29 +01:00 (CET) Date last edited 2019-04-30 15:40:56 +02:00 (CEST)

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