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intellectual developmental disorder with dysmorphic facies and ptosis

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures.
Mondo Term and Equivalent IDs
MONDO:0015022:  intellectual developmental disorder with dysmorphic facies and ptosis
EFO:0009070: 
UMLS:C4310617: