" /> Sc phocomelia syndrome - CISMeF





Preferred Label : Sc phocomelia syndrome;

Obsolete resource : true;

Moved to : 268300;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sc pseudothalidomide syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in establishment of sister chromatid cohesion N-acetyltransferase 2 gene (ESCO2, 609353.0004);

Laboratory abnormalities : Premature separation of centromeric heterochromatin;

Prefixed ID : 269000;

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29/07/2025


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