" /> Chops syndrome - CISMeF





Preferred Label : Chops syndrome;

Symbol : CHOPS;

CISMeF acronym : CHOPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the AF4/FMR2 family, member 4 gene (AFF4, 604417.0001);

Prefixed ID : #616368;

Détails


Vous pouvez consulter :


Nous contacter.
27/07/2025


[Accueil] [Haut de page]

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