" /> Traboulsi syndrome - CISMeF





Preferred Label : Traboulsi syndrome;

CISMeF acronym : FDLAB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism; FDLAB; Shawaf-traboulsi syndrome; Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aspartate beta-hydroxylase gene (ASPH, 600582.0001);

Prefixed ID : #601552;

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.