" /> Intellectual developmental disorder, X-linked, syndromic 14 - CISMeF





Preferred Label : Intellectual developmental disorder, X-linked, syndromic 14;

Symbol : MRXS14;

CISMeF acronym : MRXS14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 14;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the UPF3B regulator of nonsense-mediated mRNA decay gene (UPF3B, 300298.0001);

Prefixed ID : #300676;

Details


You can consult :


Nous contacter.
12/06/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.