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cerebellar-facial-dental syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies.
Mondo Term and Equivalent IDs
MONDO:0014529:  cerebellar-facial-dental syndrome
EFO:0009030: 
Orphanet:444072: 
UMLS:C4015495: 
UMLS:CN221667: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found