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distal 10q deletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal 10q deletion syndrome

MONDO:0012315

Also known as:chromosome 10q26 deletion syndromedistal deletion 10qdistal monosomy 10q

Overview

Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.

GeneticsSporadic (not inherited), Autosomal dominant

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 always present findings: Cryptorchidism; and very common findings: Specific learning disability, Intellectual disability, Global developmental delay, and Delayed speech and language development and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Seizure, Aggressive behavior, Specific learning disability

Prognosis

Phenotype severity distribution: 1 always present feature, 5 very common features, 15 common features.

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

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 8:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609625

Orphanet

European rare disease database

Orphanet:96148

GARD

Genetic and Rare Diseases Info Center

GARD:3711

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distal 10q deletion syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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