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Partial deletion of chromosome 20

MONDO:0016882

Also known as: partial deletion of chromosome type 20, partial monosomy of chromosome 20

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

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Sub-types

20p12.3 microdeletion syndrome (0) 20p13 microdeletion syndrome (0) 20q11.2 microdeletion syndrome (0) 20q13.33 microdeletion syndrome (0) Alagille syndrome due to 20p12 microdeletion (0) Non-distal monosomy 20q (0) Okihiro syndrome due to 20q13 microdeletion (0) Partial deletion of the long arm of chromosome 20 (0) Partial monosomy of the short arm of chromosome 20 (0) Paternal 20q13.2q13.3 microdeletion syndrome (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 20 disorder (0) Disease by etiologic mechanism (0) Syndrome caused by partial chromosomal deletion (0)
Not yet finished but already full! 1 Completed 1
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  • 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

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