Cerebellar-facial-dental syndrome

MONDO:0014529

A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.

Also known as: Cerebellofaciodental syndrome, cerebellar-facial-dental syndrome, CEREBELLOFACIODENTAL syndrome, CFDS

1 clinical trial for this condition and its sub-types, 0 tagged with Cerebellar-facial-dental syndrome itself.

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↑ Hereditary neurological disease (5791) ↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Central nervous system malformation (51)

Including sub-types (1) Tagged with Cerebellar-facial-dental syndrome (0)

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