| Metadata | |
|---|---|
| ID | DOID:0111714 |
| Name | Mulchandani-Bhoj-Conlin syndrome |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715735007 |
| Subsets |
DO_rare_slim |
| Synonyms |
maternal uniparental disomy of chromosome 20 [EXACT] maternal UPD(20) [EXACT] MBCS [EXACT] UPD(20)mat [EXACT] |
| Parent Relationships |
is_a syndrome |