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Orofaciodigital syndrome type 6
rareJoubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
- Identifiers
- MONDO:0010176 OMIM:277170Orphanet:2754
- Part of
- Joubert syndrome 17Central nervous system malformationHereditary neurological diseaseOrofaciodigital syndrome
- Also known as
- Joubert syndrome with oral-facial-digital syndrome · Joubert syndrome with orofaciodigital defect · OFD6 · oral-facial-digital syndrome type 6 · orofaciodigital syndrome VI
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