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Condition report · Neurological

DHX30-Related Neurodevelopmental Disorder

A neurodevelopmental condition causing developmental delay, intellectual disability and severe speech difficulties, and in many cases difficulty walking. It is caused by changes in one copy of the DHX30 gene.

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 the DHX30 gene, which makes an RNA helicase. Many changes are missense changes in key parts of the protein, and several reported cases arose de novo; changes that switch off one copy tend to cause a milder picture.

Signs and symptoms

Severe global developmental delay and intellectual disability, with severe speech impairment or absent language. Gait abnormalities are common, and motor development is severely delayed. Feeding difficulties, sleep problems and autistic features are common. Seizures can also occur.

What a diagnosis changes

Developmental, physiotherapy, communication and feeding support, with assessment of sleep and seizures. Several reported cases arose de novo, but genetic counselling and parental testing help clarify recurrence risk.

Genes analysed

Also known as

DHX30 syndrome; DHX30-related complex neurodevelopmental disorder; NEDMIAL; neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

MONDO:0060622OMIM 617804Orphanet 647788MedGen 1622162Sources: [1][2][3]

References

  1. Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T et al., 2022. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine
  2. Alomaim MM, Mushiba AM, 2023. A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL). Cureus
  3. Park EG, Seo GH, Yang A, 2023. DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review. Annals of clinical and laboratory science

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