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Features include always present findings: Poor speech, Narrow forehead, Strabismus, and Short foot and others; and rarely findings: Fragile nails. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Poor speech, Seizure, Severe intellectual disability |
CAMK2G encodes calcium/calmodulin dependent protein kinase II gamma (558 aa). Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine and synapse formation and neuronal plasticity. Highest expression in Artery Tibial (127.1 TPM) and Colon Sigmoid (115.7 TPM).
Intellectual developmental disorder 59 has limited evidence linking it to mutations in the CAMK2G gene on chromosome 10.
The CAMK2G protein participates in p-CAMK2D, p-CAMK2G pathway.
CAMK2G is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 1.2.
Genetic testing for CAMK2G is available. Testing is considered research-grade for diagnosis.
Biomarker and diagnostic research for intellectual developmental disorder 59 has been reported in the published literature.
Phenotype severity distribution: 15 always present features.
No clinical trials have been registered for intellectual developmental disorder 59.
201 publications have been identified in PubMed for intellectual developmental disorder 59. Kisho has analyzed 81 by research type. Research spans Epidemiology / Natural History (37%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (19%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 30 | 37% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:00 PM UTC
Online Mendelian Inheritance in Man
3 |
Flat face, Macrocephaly, Facial hypotonia |
Growth and development | 2 | Short stature, Mild short stature |
Muscles | 2 | Generalized hypotonia, Facial hypotonia |
Eyes | 1 | Strabismus |
Arms and legs | 1 | Short foot |
Skin | 1 | Fragile nails |
Research summaries |
20 |
25% |
Laboratory research | 15 | 19% |
Clinical study results | 8 | 10% |
Patient case studies | 3 | 4% |
Other research | 2 | 2% |
Testing and diagnosis research | 2 | 2% |
New treatment approaches | 1 | 1% |
GBD 2023 Meningitis & Antimicrobial Resistance Collaborators (2026). [PMID: 41911930](https://pubmed.ncbi.nlm.nih.gov/41911930/). *Lancet Neurol*. [Review / Meta-Analysis]
Shaw KA (2026). [PMID: 41661606](https://pubmed.ncbi.nlm.nih.gov/41661606/). *JAMA Pediatr*. [Epidemiology / Natural History]
GBD 2023 Lower Respiratory Infections and Antimicrobial Resistance Collaborators (2026). [PMID: 41412141](https://pubmed.ncbi.nlm.nih.gov/41412141/). *Lancet Infect Dis*. [Epidemiology / Natural History]
Kang J (2026). [PMID: 41545593](https://pubmed.ncbi.nlm.nih.gov/41545593/). *Nat Med*. [Epidemiology / Natural History]
Steinbart D (2026). [PMID: 41352323](https://pubmed.ncbi.nlm.nih.gov/41352323/). *Seizure*. [Epidemiology / Natural History]
Möller B (2025). [PMID: 38848546](https://pubmed.ncbi.nlm.nih.gov/38848546/). *Brain*. [Review / Meta-Analysis]
Puri AG (2025). [PMID: 40934838](https://pubmed.ncbi.nlm.nih.gov/40934838/). *Seizure*. [Review / Meta-Analysis]
Chorin O (2025). [PMID: 40102980](https://pubmed.ncbi.nlm.nih.gov/40102980/). *Orphanet J Rare Dis*. [Case Report / Case Series]
Varesio C (2025). [PMID: 41129843](https://pubmed.ncbi.nlm.nih.gov/41129843/). *Eur J Paediatr Neurol*. [Other]
Merkevicius K (2025). [PMID: 41239557](https://pubmed.ncbi.nlm.nih.gov/41239557/). *Brain*. [Basic Science / Preclinical]