Cerebellar-facial-dental syndrome

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Synonyms: Cerebellofaciodental syndrome

A rare autosomal recessive multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay variable intellectual disability microcephaly cerebellar hypoplasia dysmorphic features (central incisors macrodontia and slender fingers) short stature and variable congenital anomalies.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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