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Condition report · Neurological

Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)

A group of rare conditions causing developmental delay and intellectual disability, often with birth differences of the brain, heart or other organs. This report analyses the TRRAP, MYH10, RERE and SOX11 genes, where new changes usually cause the condition.

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

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The 2 conditions we analyse

Complex Neurodevelopmental Disorder With or Without Congenital Anomalies

Autosomal dominant

Caused by a change in one copy of MYH10 or RERE, genes involved in cell structure and gene regulation during brain development. Most changes arise new (de novo) in the affected person.

Signs and symptoms

Developmental delay and intellectual disability of variable severity, often with autism or behavioural differences and low muscle tone. Birth differences of the brain, eyes, heart, kidneys or genitals occur in some people, depending on the gene. Less often there are seizures or hearing loss.

What a diagnosis changes

Care involves developmental and educational support with assessment of the heart, kidneys, eyes, hearing and brain as indicated. Most cases arise de novo, but parental testing and genetic counselling help estimate recurrence risk, which is low but not zero because of possible parental mosaicism.

Genes analysed

Specific forms also covered

  • SOX11-Related Neurodevelopmental Disorder (Coffin-Siris Syndrome 9)

    Autosomal dominant

    Caused by a change in one copy of SOX11, a transcription factor important in early brain development; most changes arise de novo.

    SOX11

Includes 2 related subtypes ↓
  • MYH10-related neurodevelopmental disorder with congenital anomalies
  • SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
MONDO:0100465Sources: [4][1][5]

References

  1. Scott DA, Sherr EH, 2019. RERE-Related Disorders. GeneReviews
  2. Schrier Vergano S, Santen G, Wieczorek D, Matsumoto N, 2013. Coffin-Siris Syndrome. GeneReviews
  3. Coffin-Siris syndrome. MedlinePlus Genetics
  4. Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E et al., 2022. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genetics in medicine : official journal of the American College of Medical Genetics
  5. Curtis D, Zhao X, Owen NM, Azamian MS, Lalani SR, Keller K et al., 2026. New genotype-phenotype correlations and management recommendations for individuals with RERE variants. Genetics in medicine : official journal of the American College of Medical Genetics
  6. SOX11 gene. MedlinePlus Genetics

Other neurological conditions

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