Chromosome 6pter-p24 deletion syndrome
MONDO:0012948Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Also known as: 6p subtelomeric deletion syndrome, 6p25 microdeletion syndrome, chromosome 6pter-p24 deletion syndrome, chromosome 6pter-p24 deletion syndrome, isolated cases, distal deletion 6p, distal monosomy type 6p, monosomy 6p25
16 clinical trials for this condition and its sub-types.
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Eye scanner software update put to the test
Knowledge-focused OngoingThis study compares a new software version (1.5) of the ANTERION eye imaging device against the older cleared version (1.2.4). Researchers will check if the new software gives consistent and accurate measurements of eye structures like cornea thickness and lens thickness. The stu…
Sponsor: Heidelberg Engineering GmbH • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Free eye tests aim to catch vision loss early in harlem and washington heights
Knowledge-focused OngoingThis study offers free vision screenings to underserved adults over 40 living in affordable housing in Harlem and Washington Heights. The goal is to find eye problems like glaucoma, cataracts, and diabetic retinopathy early and connect people with follow-up care. About 749 partic…
Phase: NA • Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC
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10,000 genomes scoured for clues to rare brain diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.
Sponsor: Karolinska Institutet • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:56 UTC