Features include very common findings: Global developmental delay; and common findings: Low muscle tone (hypotonia), Microcephaly, Absent speech, and Apnea and others. 61 total HPO annotations.

CAMK2B encodes calcium/calmodulin dependent protein kinase II beta (666 aa). Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle. Highest expression in Brain Cerebellar Hemisphere (275.2 TPM) and Brain Cerebellum (246.2 TPM).

Intellectual disability, autosomal dominant 54 is associated with mutations in the CAMK2B gene on chromosome 7.

The CAMK2B protein participates in p-CAMK2A, p-CAMK2B pathway.

CAMK2B is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 5.2.

Genetic testing for CAMK2B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal dominant 54 has been reported in the published literature.

Phenotype severity distribution: 1 very common feature, 7 common features.

No clinical trials have been registered for intellectual disability, autosomal dominant 54.

14 publications have been identified in PubMed for intellectual disability, autosomal dominant 54. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (29%), and Diagnostic / Biomarker (21%).