Term Name: | Mulchandani-Bhoj-Conlin syndrome |
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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. |
Ontology: | Human Disease [DOID:0111714] ( DOID:0111714 ) |