Ritscher-Schinzel syndrome 1

Term ID

DOID:0060571

Synonyms

Definition

A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. https://www.ncbi.nlm.nih.gov/pubmed/24065355

References

• OMIM:220210
• ORDO:7

Ontology

Human Disease   ( DOID:0060571 )