" /> Neurodevelopmental disorder with seizures and speech and walking impairment - CISMeF





Preferred Label : Neurodevelopmental disorder with seizures and speech and walking impairment;

Symbol : NEDSSWI;

CISMeF acronym : NEDSSWI;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the deoxyhypusine synthase gene (DHPS, 600944.0001);

Prefixed ID : #618480;

Details


You can consult :


Nous contacter.
03/06/2025


[Home] [Top]

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