U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Mitochondrial complex 1 deficiency, nuclear type 15(MC1DN15)

MedGen UID:
1648320
Concept ID:
C4748778
Disease or Syndrome
Synonym: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
 
NDUFAF4 (6q16.1)
 
Monarch Initiative: MONDO:0032620
OMIM®: 618237

Clinical features

From HPO

Recent clinical studies

Etiology

Gurubaran IS
Acta Ophthalmol 2024 Mar;102 Suppl 282:3-53. doi: 10.1111/aos.16661. PMID: 38467968

Diagnosis

Tucker EJ, Compton AG, Calvo SE, Thorburn DR
IUBMB Life 2011 Sep;63(9):669-77. Epub 2011 Jul 15 doi: 10.1002/iub.495. PMID: 21766414

Clinical prediction guides

Gurubaran IS
Acta Ophthalmol 2024 Mar;102 Suppl 282:3-53. doi: 10.1111/aos.16661. PMID: 38467968

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
External link. Please review our privacy policy.