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paternal 20q13.2q13.3 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

paternal 20q13.2q13.3 microdeletion syndrome

MONDO:0016842

Also known as:paternal 20q13.2-q13.3 microdeletion syndromepaternal del(20)(q13.2q13.3)paternal monosomy 20q13.2-q13.3

Overview

Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.

Diagnosis

Biomarker and diagnostic research for paternal 20q13.2q13.3 microdeletion syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for paternal 20q13.2q13.3 microdeletion syndrome.

38 publications have been identified in PubMed for paternal 20q13.2q13.3 microdeletion syndrome. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	19	50%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:261304

GARD

Genetic and Rare Diseases Info Center

GARD:20777

Questions for Your Care Team

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paternal 20q13.2q13.3 microdeletion syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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