Kenny-Caffey syndrome type 1

Term ID

DOID:0080722

Synonyms

Definition

A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/9806825/

References

• GARD:8367
• OMIM:244460
• ORDO:93324

Ontology

Human Disease   ( DOID:0080722 )