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GTR Home > Conditions/Phenotypes > Orofaciodigital syndrome 19

Orofaciodigital syndrome 19

Synonyms
OFDS XIX; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX; OROFACIODIGITAL SYNDROME XIX

Summary

Orofaciodigital syndrome XIX (OFD19) is an autosomal recessive ciliopathy characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies. Some patients have notching of the upper or lower lip (Iturrate et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: OFD19, SCNM1
    Summary: sodium channel modifier 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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