Meckel syndrome 4

Term ID

DOID:0070118

Synonyms

• Meckel-Gruber syndrome, type 4
• MKS4

Definition

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. https://www.ncbi.nlm.nih.gov/pubmed/17564974

References

• ICD10CM:Q61.9
• MIM:611134

Ontology

Human Disease   ( DOID:0070118 )