MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7307
Name:Macrostomia
Definition:Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)
Alternative IDs:OMIM:613545
ParentIDs:MESH:D009056
TreeNumbers:C07.465.525.480 |C07.650.525.480 |C16.131.850.525.480
Synonyms:COMMISSURAL CLEFT, ISOLATED |LATERAL CLEFT, ISOLATED |MACROSTOMIA, ISOLATED |Macrostomias |TRANSVERSE CLEFT, ISOLATED
Slim Mappings:Congenital abnormality|Mouth disease
Reference: MedGen: D008265
MeSH: D008265
OMIM: 613545;
MSeqDR LSDB:  
Genes: SDHA; SDHAF1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal