Phenotype #0000280943

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00387380
Associated disease	ACHP
Phenotype details	bilateral truncations distal humeri and the tibiae, absence fibulae, presence Bohomoletz bone at distal aspect humeri
Diagnosis/Initial	acheiropody
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ACHP
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-10-29 09:24:43 +02:00 (CEST)
Date last edited	N/A

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