intellectual disability, autosomal dominant 40
MONDO:0014699
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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CHAMP1-related neurodevelopmental disorder
CHAMP1-related neurodevelopmental disorder is an ultra-rare genetic disorder caused by de novo pathogenic variants or deletions of the CHAMP1 gene on chromosome 13. The condition is primarily characterized by global developmental delay, varying degrees of intellectual disability, and severe speech and language impairment. Other common features include low muscle tone (hypotonia), feeding difficulties, gastrointestinal problems, behavioral differences, and distinctive facial features. The disorder was first described in 2015 and is classified as autosomal dominant, meaning a change in only one of the two copies of the gene is sufficient to cause the condition; in almost all known cases the variant has arisen spontaneously and is not inherited from a parent.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.