Details of Disease | DrugMAP

General Information of Disease (ID: DISYVR8V)

Disease Name	Cerebellar-facial-dental syndrome
Synonyms	CFDS; CEREBELLOFACIODENTAL syndrome; cerebellar-facial-dental syndrome; Cerebellofaciodental syndrome
Definition	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.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISOV08L: Central nervous system malformation DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISYVR8V: Cerebellar-facial-dental syndrome
Disease Identifiers	MONDO ID MONDO_0014529 UMLS CUI C4015495 OMIM ID 616202 MedGen ID 863932 Orphanet ID 444072 SNOMED CT ID 1237475006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRF1	OTQC6DMG	Definitive	Autosomal recessive	[1]
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References

1	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res. 2015 Feb;25(2):155-66. doi: 10.1101/gr.176925.114. Epub 2015 Jan 5.