Global Variome shared LOVD

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

Phenotype #0000201639 Individual ID 00263284 Associated disease TAR Phenotype details platelet count (x 109/L) lowest ? , highest 20; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset neonatal problems unknown Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-09-14 18:55:03 +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.