Cure My Disease

Don't miss your cure!

Log in / Sign up

Paternal uniparental disomy of chromosome 6

MONDO:0019921

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

Also known as: UPD(6)pat, paternal uniparental disomy of chromosome type 6

2 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 6 disorder (0) Disease by etiologic mechanism (0) Uniparental disomy (0)

Not yet finished but already full! 1 Completed 1

10,000 genomes scoured for clues to rare brain diseases

Knowledge-focused ENROLLING_BY_INVITATION

This 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