Phenotype #0000201610

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00263261
Associated disease	TAR
Phenotype details	delivery 40w, birth weight 3150g; platelet count (x 109/L) lowest 29 , highest 64; upper limb absence of radius, ulna and humerus, hypoplasia of scapula; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	neonatal bleeding
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

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