" /> Cebalid syndrome - CISMeF





Preferred Label : Cebalid syndrome;

Symbol : CEBALID;

CISMeF acronym : CEBALID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development; Mn1 C-terminal truncation syndrome; MCTT;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MN1 protooncogene, transcriptional regulator gene (MN1, 156100.0001);

Prefixed ID : #618774;

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04/05/2025


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