COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7?

Accepted Answer

rare
autosomal recessive
mutation in the C12ORF65 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 7

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613559

Question 4

Which enzymes are involved?

Accepted Answer

Probable peptide chain release factor C12orf65, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7
OMIM	613559 OMIM = Online Mendelian Inheritance of Men
Orphanet	254930
Protein (UniProt)	Probable peptide chain release factor C12orf65, mitochondrial
Gene locus	12q24.31
ICD	G31.8
Summary	rare autosomal recessive mutation in the C12ORF65 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	ataxia blindness, visual loss, visual impairment dysarthria failure to thrive ileus lactic acidosis nystagmus onset, childhood onset, infancy ophthalmoplegia optic atrophy psychomotor regression psychomotor retardation ptosis (drooping eyelid) swallowing difficulties