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distal monosomy 13q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal monosomy 13q

MONDO:0011248

Also known as:13q32 deletiondeletion 13q32distal 13q deletion

Overview

Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Ambiguous genitalia, Microcephaly, Hypertelorism, and Iris coloboma and others.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Eyes

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 distal monosomy 13q.

5 publications have been identified in PubMed for distal monosomy 13q. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

Sokolik ID (2026). [PMID: 40897945](https://pubmed.ncbi.nlm.nih.gov/40897945/). *Skeletal radiology*. [Case Report / Case Series]
Mendlikova I (2026). [PMID: 41886128](https://pubmed.ncbi.nlm.nih.gov/41886128/). *Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology*. [Case Report / Case Series]
Efimova I (2025). [PMID: 41096571](https://pubmed.ncbi.nlm.nih.gov/41096571/). *International journal of molecular sciences*. [Case Report / Case Series]
Lu X (2025). [PMID: 40533444](https://pubmed.ncbi.nlm.nih.gov/40533444/). *Blood cancer journal*. [Review / Meta-Analysis]
Hellberg M (2025). [PMID: 41432308](https://pubmed.ncbi.nlm.nih.gov/41432308/). *Genes, chromosomes & cancer*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602553

Orphanet

European rare disease database

Orphanet:1590

GARD

Genetic and Rare Diseases Info Center

GARD:16571

Questions for Your Care Team

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distal monosomy 13q

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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