molybdenum cofactor deficiency type C

info · Genetic

A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.

Signs and symptoms

Poor head control
Axial hypotonia
Hypertonia
Bilateral tonic-clonic seizure
Sulfite oxidase deficiency
Generalized myoclonic seizure
Cerebellar hypoplasia
Generalized-onset seizure
Feeding difficulties
Increased urinary taurine

Also known as: MOCOD type C; MOCODC; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C; molybdenum cofactor deficiency complementation group C