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Kleefstra syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms.
Mondo Term and Equivalent IDs
MONDO:0054701:  Kleefstra syndrome 2
DOID:0080598: