Mulchandani-Bhoj-Conlin syndrome (DOID:0111714)
Alliance: disease page
Synonyms: maternal uniparental disomy of chromosome 20; maternal UPD(20); MBCS; UPD(20)mat
Alt IDs: OMIM:617352, ORDO:96186, UMLS_CUI:C4275029
Definition: A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.