Oral-facial-digital syndrome describes a heterogeneous group of disorders characterized by facial features, oral abnormalities, and digital anomalies such as polydactyly.
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ARL13B, CC2D2A, CEP290, CSPP1, EXOC8, GLI3, INPP5E, MKS1, NEK8, NPHP1/3, OFD1 and others Hypotonia, ataxia, psychomotor delay, oculomotor apraxia, macrocephaly, facial abnormalities
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Senior–Løken syndrome (SLS) CEP290, NPHP1-4, QCB1, SDCCAG8 Retinitis pigmentosa and renal disease Orofaciodigital syndrome (OFD) OFD1 Malformations of oral cavity, face, digits
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