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GENATLAS PHENOTYPE

last update : 10-04-2019

Symbol	MTDPS10
Location	7q34
Name	mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Other name(s)	congenital cataract and mitochondrial myopathy Sengers syndrome
Corresponding gene	AGK
Other symbol(s)	CACM
Main clinical features	congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis, hypotonia, intellectual disability; two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance muscular hypotonia and delayed motor development, hypertrophic cardiomyopathy progressive and the cause of premature death, exercise intolerance, and lactic acidosis
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	neuromuscular
	mental retardation
Type	disease

Remark(s)