" /> Neurodevelopmental disorder with microcephaly and gray sclerae - CISMeF





Preferred Label : Neurodevelopmental disorder with microcephaly and gray sclerae;

Symbol : NEDMIGS;

CISMeF acronym : MRT55;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRT55; Mental retardation, autosomal recessive 55;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pseudouridylate synthase 3 gene (PUS3, 616283.0001);

Prefixed ID : #617051;

Details


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07/07/2025


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