" /> Ohdo syndrome, X-linked - CISMeF





Preferred Label : Ohdo syndrome, X-linked;

Symbol : OHDOX;

CISMeF acronym : OHDOX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Blepharophimosis-mental retardation syndrome, maat-kievit-brunner type;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae mediator of RNA polymerase II transcription, subunit 12 (MED12, 300188.0003);

Prefixed ID : #300895;

Details


You can consult :


Nous contacter.
04/05/2025


[Home] [Top]

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