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Condition report · Neurological

Lessel-Kreienkamp Syndrome

A rare neurodevelopmental condition causing developmental and speech delay, intellectual disability and low muscle tone, often with behavioural differences. It is caused by changes in one copy of the AGO2 gene.

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The condition we analyse

Autosomal dominant

Caused by changes in one copy of AGO2, a key protein in the microRNA system that regulates gene activity. Gonadal mosaicism has been reported, meaning a parent can carry the change in some reproductive cells.

Signs and symptoms

Developmental delay with prominent speech delay and intellectual disability of varying severity, with low muscle tone. Behavioural differences such as autism and hyperactivity are common, as are visual impairment and structural brain differences. Skeletal, facial, heart and male genital differences are also common.

What a diagnosis changes

Developmental, speech and educational support, with behavioural care when needed. Gonadal mosaicism has been reported, so genetic counselling and parental testing help clarify recurrence risk.

Genes analysed

Also known as

LESKRES

MONDO:0030897OMIM 619149MedGen 1762595Sources: [1][3][2]

References

  1. Tibbe D, Kiel C, Ielesicheva O, Robles de Maruri K, Mahboobi H, Züghart J et al., 2026. The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome. Genome medicine
  2. Yang S, Song W, Yan Y, 2025. Identification of a novel AGO2 variant causing LESKRES in a Chinese family with intellectual disability. Frontiers in genetics
  3. Liu TM, Tibbe D, Engler JB, Hermans-Borgmeyer I, Borgmeyer U, de Maruri KR et al., 2025. Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome. Nucleic acids research

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