" /> Macroglossia - CISMeF





Preferred Label : Macroglossia;

Type : Phenotype or locus, molecular basis unknown;

Description : Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650).;

Inheritance : Autosomal dominant;

Prefixed ID : %153630;

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27/07/2025


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