Features include always present findings: Inability to walk, Absent speech, Interictal epileptiform activity, and Global developmental delay and others.

CAMK2A encodes calcium/calmodulin dependent protein kinase II alpha (478 aa). Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiation. Highest expression in Brain Frontal Cortex BA9 (625.7 TPM) and Brain Cortex (564.1 TPM).

Intellectual disability, autosomal recessive 63 is associated with mutations in the CAMK2A gene on chromosome 5.

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

CAMK2A is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 0.4.

Genetic testing for CAMK2A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 63 has been reported in the published literature.

Phenotype severity distribution: 8 always present features.

No clinical trials have been registered for intellectual disability, autosomal recessive 63.

12 publications have been identified in PubMed for intellectual disability, autosomal recessive 63. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (17%).