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Human Disease
orofaciodigital syndrome XIX
- Term ID
- DOID:0060960
- Synonyms
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- 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
- Ontology
- Human Disease ( DOID:0060960 )
- is a type of
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