Term Name: | orofaciodigital syndrome XIX |
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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 ) |