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GENATLAS PHENOTYPE

last update : 27/06/2006

Symbol	EDM4
Location	5q33.1
Name	epiphyseal dysplasia multiple 4
Other name(s)	multiple epiphyseal dysplasia with clubfoot
Corresponding gene	SLC26A2
Other symbol(s)	MEDH4
Main clinical features	normal stature, hip dysplasia, double layered patella
Genetic determination	autosomal recessive
Related entries	including cases of apparently isolated club foot
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	sulfate transporter (SLC26A2), mostly homozygous R279W mutation, homozygous for partial-function mutation

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)