" /> Lowry-wood syndrome - CISMeF





Preferred Label : Lowry-wood syndrome;

Symbol : LWS;

CISMeF acronym : LWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA, U4ATAC small nuclear gene (RNU4ATAC, 601428.0001);

Prefixed ID : #226960;

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29/07/2025


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