Phenotype #0000357015

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472206
Associated disease	DAIPT
Diagnosis/Initial	Myopathy with joint contractures
Diagnosis/Definite	Arthrogryposis, distal, with impaired proprioception and touch
Phenotype details	Skeletal myopathy, Contractures of the joints of the lower limbs, Moderate global developmental delay, Mental deterioration, Tall stature
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Camille Verebi
Database submission license
Created by	Camille Verebi
Date created	2026-01-15 16:46:55 +01:00 (CET)
Date last edited	2026-02-06 10:21:15 +01:00 (CET)

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