molybdenum cofactor deficiency type C

MeSH: C565374ORPHA: 308400

Overview

molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C565374

Orphanet Code

ORPHA:308400
molybdenum cofactor deficiency type C
MeSHC565374
OrphanetORPHA:308400
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO