CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome" OR "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of the vision-facial dysmorphism syndrome" OR "Snijders Blok-Campeau syndrome" OR "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

(empty)

Recall-expansion terms: CHD3

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22CHD3-related%20developmental%20delay-speech%20delay-intellectual%20disability-abnormalities%20of%20vision-facial%20dysmorphism%20syndrome%22%20OR%20%22CHD3-related%20developmental%20delay-speech%20delay-intellectual%20disability-abnormalities%20of%20the%20vision-facial%20dysmorphism%20syndrome%22%20OR%20%22Snijders%20Blok-Campeau%20syndrome%22%20OR%20%22intellectual%20developmental%20disorder%20with%20macrocephaly%2C%20speech%20delay%2C%20and%20dysmorphic%20facies%22%20OR%20%22CHD3%22&format=json&pageSize=100&countTotal=true

Confidence reasoning

• Preferred label is multi-word and distinctive
• No synonyms dropped by stoplist
• No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T18:56:39.372Z