" /> Roberts-sc phocomelia syndrome - CISMeF





Preferred Label : Roberts-sc phocomelia syndrome;

Symbol : RBS;

CISMeF acronym : RBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Long bone deficiencies associated with cleft lip-palate; Roberts syndrome; Sc pseudothalidomide syndrome; Sc phocomelia syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the establishment of sister chromatid cohesion N-acetyltransferase 2 gene (ESCO2, 609353.0001);

Laboratory abnormalities : Premature separation of centromeric heterochromatin; Normal karyotype; Abnormal nuclear morphology;

Prefixed ID : #268300;

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29/07/2025


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