Phenotype #0000187436

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00248445
Associated disease	arthrogryposis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	distal arthrogryposis
Age/Examination	-
Diagnosis/Definite	DA-5D
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Phenotype details	see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-23 23:23:22 +02:00 (CEST)
Date last edited	N/A