MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (MC3DN7)

Question 1

What is  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (MC3DN7)?

Accepted Answer

rare

autosomal recessive

mutation in the UQCC2 gen

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615824

Question 3

Which enzymes are involved?

Accepted Answer

Ubiquinol-cytochrome-c reductase complex assembly factor 2

Disease	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (MC3DN7)
OMIM	615824 OMIM = Online Mendelian Inheritance of Men
Orphanet	1460
Protein (UniProt)	Ubiquinol-cytochrome-c reductase complex assembly factor 2
Gene locus	6p21.31
ICD
Summary	rare autosomal recessive mutation in the UQCC2 gen
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	behavior, aggressive behavior, autism or autistic-like behavior, hyperactive, restless developmental delay dysmorphism hearing defect, deafness hypotonia intrauterine growth retardation metabolic acidosis onset, infancy polydactyly psychomotor retardation seizures testes, undescended