| Metadata | |
|---|---|
| ID | DOID:0111842 |
| Name | Keipert 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:763774001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
KPTS [EXACT] nasodigitoacoustic syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |