Global Variome shared LOVD

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

Phenotype #0000229661 Individual ID 00302580 Associated disease AADCD Phenotype details disease moderate severity; 3m-head control; turn over at 13 m; now could sit with support and say a few simple words; EEG normal; MRI brain normal Diagnosis/Initial aromatic L-amino acid decarboxylase deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite AADCD Age/Examination 14m Age/Diagnosis - Age/Onset 3m Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-26 11:47:46 +02:00 (CEST) Date last edited N/A

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