" /> Ataxia-pancytopenia syndrome - CISMeF





Preferred Label : Ataxia-pancytopenia syndrome;

Symbol : ATXPC;

CISMeF acronym : ATXPC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myelocerebellar disorder;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sterile alpha motif domain-containing protein 9-like gene (SAMD9L, 611170.0001);

Neoplasia : Increased risk of myeloid leukemia (in some patients);

Prefixed ID : #159550;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

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