delayed milestones

Mental Retardation, AD 53

Clinical Characteristics
Ocular Features: 

Dysmorphism of periocular structures includes downward slanting lid fissures, hypertelorism, and epicanthal folds.  Evidence for visual problems comes from visual tracking difficulties in some individuals.  Strabismus is present in a minority of patients.

Systemic Features: 

Delayed global development, cognitive impairment, and intellectual disability are major features of this form of mental retardation.  Hypotonia is present early.  Severe delays in onset of speech and walking are found in all patients and never develop in many individuals.  Behavior problems include, anxiety, hyperactivity, aggression, and autistic traits.  Feeding problems and breathing irregularities have been reported.  Seizures occur in some patients.

Brain MRIs are generally normal although corpus callosum anomalies are sometimes identified.


Heterozygous mutations in the CAMK2A gene (5q32) have been found in individuals with this disorder.

Autosomal dominant
Treatment Options: 

No treatment for the general condition has been reported.

Article Title: 

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, Berg J, Carre W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogne B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bezieau S, Odent S, Elgersma Y, Mercier S. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 2;101(5):768-788.

PubMed ID: 
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