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Kleefstra syndrome

Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.

Intellectual disability, severe

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.

Total: 1

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PMID (PMCID)
26833960	FEMALE	Child
	Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.
	Samango-Sprouse C, Lawson P, Sprouse C, Stapleton E, Sadeghin T, Gropman A. Am J Med Genet A. 2016;170A(5):1312-6.
	Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits.