OnlineIMD
AIFM1 deficiency
Synonym(s)
Combined oxidative phosphorylation deficiency type 6
,
Cowchock syndrome
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
AIFM1
/ Apoptosis Inducing Factor Mitochondria Associated 1
Xq26.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Apoptosis-inducing factor
Disease group(s)
11.4 Miscellaneous disorders associated with mitochondrial dysfunction
Child entries
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
X-linked hereditary sensory and autonomic neuropathy with deafness