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Metadata
ID DOID:0060654
Name lethal congenital contracture syndrome 4
Definition A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23.
https://www.ncbi.nlm.nih.gov/pubmed/22610851
Xrefs

GARD:12645

OMIM:614915

Subsets

DO_rare_slim

Parent Relationships

is_a lethal congenital contracture syndrome

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