Features include always present findings: Kyphoscoliosis, Global developmental delay, Microcornea, and Anteverted ears and others; and common findings: Microcephaly and Short stature.

HMGB3 encodes high mobility group box 3 (200 aa). Multifunctional protein with various roles in different cellular compartments. May act in a redox sensitive manner. Highest expression in Cells EBV-transformed lymphocytes (27.9 TPM) and Cells Cultured fibroblasts (24.7 TPM).

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is associated with mutations in the HMGB3 gene on chromosome X.

HMGB3 is classified as a druggable target with score 0.0.

Genetic testing for HMGB3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 12 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).