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fetal encasement syndrome
Summary
- Synonym
-
- cocoon syndrome
- Definition
- A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060647
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
