cerebrooculofacioskeletal syndrome

Term ID

DOID:0080910

Synonyms

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/

References

GARD:6027
MIM:PS214150

Ontology

Human Disease ( DOID:0080910 )

Relationships

is a type of: Cockayne syndrome

Cockayne syndrome Show first 5 Terms
has subtype: cerebrooculofacioskeletal syndrome 1 cerebrooculofacioskeletal syndrome 2 cerebrooculofacioskeletal syndrome 3 cerebrooculofacioskeletal syndrome 4

cerebrooculofacioskeletal syndrome 1 cerebrooculofacioskeletal syndrome 2 cerebrooculofacioskeletal syndrome 3 cerebrooculofacioskeletal syndrome 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models