" /> Encephalocraniocutaneous lipomatosis - CISMeF





Preferred Label : Encephalocraniocutaneous lipomatosis;

Symbol : ECCL;

CISMeF acronym : ECCL;

Type : Phenotype, molecular basis known;

Description : Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies (Moog et al., 2007).;

Inheritance : Somatic mosaicism;

Molecular basis : Caused by postzygotic somatic mutation of the fibroblast growth factor receptor 1 (FGFR1, 136350.0033);

Neoplasia : Pilocytic astrocytoma (in some patients); Low-grade glioma (in some patients);

Prefixed ID : #613001;

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.