Term Name: orofaciodigital syndrome XIX
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.
Ontology: Human Disease [DOID:0060960]   ( DOID:0060960 )

Relationships
is a type of: autosomal recessive disease orofaciodigital syndrome