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Condition report · Neurological

Stankiewicz-Isidor Syndrome

A rare neurodevelopmental disorder causing developmental delay and intellectual disability, often with behavioural differences and birth differences of other organs. It results from loss of one working copy of the PSMD12 gene, part of the proteasome.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal dominant

Caused by changes in one copy of PSMD12 that stop it from working, impairing the proteasome, the cell's system for breaking down proteins. Changes can be inherited from a parent.

Signs and symptoms

Developmental delay and intellectual disability of variable severity, often with speech delay and autism. Facial features that differ from usual are common, and skeletal and hand differences have been reported. Heart and kidney anomalies can also occur.

What a diagnosis changes

Developmental and educational support, with heart and kidney assessment. Genetic counselling and parental testing guide recurrence risk.

Genes analysed

Also known as

STISS

MONDO:0054591OMIM 617516MedGen 1375936Sources: [1][2][3]

Limitations

  • Some people have a deletion involving PSMD12 rather than a small variant.

References

  1. Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL et al., 2022. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genetics in medicine : official journal of the American College of Medical Genetics
  2. Feresin A, Spedicati B, Zampieri S, Morgan A, Magnolato A, Tesser A et al., 2025. Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome. American journal of medical genetics. Part A
  3. Yan K, Zhang J, Lee PY, Tao P, Wang J, Wang S et al., 2022. Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation. Arthritis & rheumatology (Hoboken, N.J.)

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