Phenotype #0000201642

Global Variome shared LOVD

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

Individual ID	00263219
Associated disease	TAR
Phenotype details	platelet count (x 109/L) lowest 94 , highest 155; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; 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
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.