Visualize Submit Comment
Metadata
ID DOID:0080289
Name orofaciodigital syndrome XVII
Definition An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
https://pubmed.ncbi.nlm.nih.gov/23459408/
Xrefs

OMIM:617926

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

Add an item to the term tracker