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macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Uniprot Description An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features.
Mondo Term and Equivalent IDs
MONDO:0014716:  macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
EFO:0009050: 
Orphanet:457485: 
UMLS:C4225259: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found