mitochondrial complex 2 deficiency, nuclear type 4
An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0031230
mitochondrial complex II deficiency, nuclear type
is_a
MC2DN4
exact
SDHB-related Nuclear type mitocondrial complex II deficiency
exact
mitochondrial complex 2 deficiency, nuclear type 4
exact
mitochondrial complex II deficiency, nuclear type 4
exact
SPAC140.01