Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 08-02-2012

Symbol	CACM2
Location	4q35.1
Name	congenital cataract and mitochondrial myopathy 2
Other name(s)	Sengers syndrome 2
Corresponding gene	SLC25A4
Main clinical features	bilateral and total cataract in the first weeks of life, with nystagmus and strabismus muscular hypotonia and delayed motor development, hypertrophic cardiomyopathy progressive and the cause of premature death, exercise intolerance, and lactic acidosis but normal mental development
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	cardiovascular
Type	disease

Remark(s)