orofaciodigital syndrome XIX

Term ID

DOID:0060960

Synonyms

• Oral-facial-digital syndrome type XIX

Definition

An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/36084634/

References

• MIM:620107

Ontology

Human Disease   ( DOID:0060960 )