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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

GARD:267

MESH:C538337

NCI:C186306

OMIM:301026

ORDO:2662

SNOMEDCT_US_2023_03_01:763774001

UMLS_CUI:C1850627

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

KPTS [EXACT]

nasodigitoacoustic syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a X-linked recessive disease

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