Meckel syndrome 8

Term ID

DOID:0070122

Synonyms

• Meckel-Gruber syndrome, type 8
• MKS8

Definition

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. https://www.ncbi.nlm.nih.gov/pubmed/21462283

References

• ICD10CM:Q61.9
• OMIM:613885
• ORDO:90674

Ontology

Human Disease   ( DOID:0070122 )