Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 30-06-2010

Symbol	DEL3P21
Location	3p21.1
Name	chromosome 3p21 microdeletion
Corresponding gene	DAG1
Main clinical features	a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities
Genetic determination	chromosomal
Prevalence	1 report (Frost 2010)
Function/system disorder	neuromuscular
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	deletion		heterozygous deletion of a 2-Mb region including the dystroglycan gene

Remark(s)