Ogden syndrome

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

合計: 2

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PMID (PMCID)
29558889 (5859388)	FEMALE	Child
	NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
	McTiernan N, Stove SI, Aukrust I, Marli MT, Myklebust LM, Houge G, Arnesen T. BMC Med Genet. 2018;19(1):47.
	In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form and, in other familial or de novo cases, withvariable degrees of syndromic intellectual disability (ID) affecting both sexes.
25099252 (4402627)	MIXED_SAMPLE	Child
	De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.
	Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, Rauch A, Arnesen T, Reis A. Eur J Hum Genet. 2015;23(5):602-9.
	The variant in the Ogden syndrome patients exhibited a lower activity than the one seen in the boy with intellectual disability, while the variant in the girl was the most severe exhibiting only residual activity in the acetylation assays used.