" /> Ataxia-oculomotor apraxia 4 - CISMeF





Preferred Label : Ataxia-oculomotor apraxia 4;

Symbol : AOA4;

CISMeF acronym : AOA4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (PNKP, 605610.0002);

Laboratory abnormalities : Increased cholesterol (in some patients); Increased alpha-fetoprotein (in some patients);

Prefixed ID : #616267;

Détails


Vous pouvez consulter :


Nous contacter.
25/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.