orofaciodigital syndrome XVI

Term ID

DOID:0080254

Synonyms

Definition

An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/26518474/

References

• OMIM:617563

Ontology

Human Disease   ( DOID:0080254 )