" /> Stolerman neurodevelopmental syndrome - CISMeF





Preferred Label : Stolerman neurodevelopmental syndrome;

Symbol : NEDSST;

CISMeF acronym : NEDCFSA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities; NEDCFSA;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine-specific demethylase 6B gene (KDM6B, 611577.0002);

Prefixed ID : #618505;

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31/07/2025


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