mitochondrial complex 2 deficiency, nuclear type 3
A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0031230
mitochondrial complex II deficiency, nuclear type
is_a
MC2DN3
exact
SDHD-related Nuclear type mitochondrial complex II deficiency
exact
mitochondrial complex 2 deficiency, nuclear type 3
exact
mitochondrial complex II deficiency, nuclear type 3
exact
SPBP23A10.16