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Human Disease

lethal congenital contracture syndrome 7

Term ID
DOID:0061263
Synonyms
Definition
A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in the CNTNAP1 gene on chromosome 17q21. (2)
References
Ontology
Human Disease   ( DOID:0061263 )
Relationships
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Genes Involved
Zebrafish Models
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