" /> Spastic paraplegia 23, autosomal recessive - CISMeF





Preferred Label : Spastic paraplegia 23, autosomal recessive;

Symbol : SPG23;

CISMeF acronym : SPG23;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lison syndrome; Spastic paraplegia with pigmentary abnormalities; Spastic paraparesis, vitiligo, premature graying, characteristic facies;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dual serine/threonine and tyrosine protein kinase gene (DSTYK, 612666.0005);

Prefixed ID : #270750;

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.