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;
Origin ID : 618774;
UMLS CUI : C5394044;
Genes related to phenotype
HPO term(s)
Semantic type(s)