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Metadata
ID DOID:0080910
Name cerebrooculofacioskeletal syndrome
Definition A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis.
https://www.ncbi.nlm.nih.gov/books/NBK1342/
Xrefs

GARD:6027

MIM:PS214150

Subsets

DO_rare_slim

Parent Relationships

is_a Cockayne syndrome

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