Mulchandani-Bhoj-Conlin syndrome

Term ID

DOID:0111714

Synonyms

• maternal uniparental disomy of chromosome 20
• maternal UPD(20)
• MBCS
• UPD(20)mat

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. https://www.ncbi.nlm.nih.gov/pubmed/26248010

References

• OMIM:617352
• ORDO:96186
• SNOMEDCT_US_2023_03_01:715735007
• UMLS_CUI:C4275029

Ontology

Human Disease   ( DOID:0111714 )