Keipert syndrome

Term ID

DOID:0111842

Synonyms

• KPTS
• nasodigitoacoustic syndrome

Definition

A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. https://www.ncbi.nlm.nih.gov/pubmed/30982611

References

• GARD:267
• MESH:C538337
• NCI:C186306
• OMIM:301026
• ORDO:2662
• SNOMEDCT_US_2023_03_01:763774001
• UMLS_CUI:C1850627

Ontology

Human Disease   ( DOID:0111842 )