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Human Disease

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
Ontology
Human Disease   ( DOID:0060960 )
Relationships
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Genes Involved
Zebrafish Models