Combined Oxydative Phosphorylation Deficiency 6

Choroid plexus cyst (CPC)Enlarged cisterna magna

Parents markers:

Ventriculomegaly

Involved genes:
(gene — definition — chromosome)

AIFM1 — APOPTOSIS-INDUCING FACTOR, MITOCHONDRIA-ASSOCIATED, 1 — Xq26.1

Other online databases:

References:

2011

Molecular Genetics and Metabolism

Case report