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motor developmental delay due to 14q32.2 paternally expressed gene defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

motor developmental delay due to 14q32.2 paternally expressed gene defect

MONDO:0014541

Also known as:mUPD14 syndromematernal uniparental disomy chromosome 14 syndromeTEMPLE syndrome

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Overview

A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.

GeneticsSporadic (not inherited), Autosomal dominant

Clinical Trials1 registered · 1 recruiting

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 very common findings: Short foot, Low muscle tone (hypotonia), Motor delay, and Precocious puberty and others; and common findings: Short stature, Relative macrocephaly, Prominent forehead, and Intellectual disability and others. 51 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Hydrocephalus, Intellectual disability, Delayed speech and language development

Diagnosis

Biomarker and diagnostic research for motor developmental delay due to 14q32.2 paternally expressed gene defect has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 13 common features.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

20 publications have been identified in PubMed for motor developmental delay due to 14q32.2 paternally expressed gene defect. Research spans Case Report / Case Series (35%), Review / Meta-Analysis (15%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	7

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616222

Orphanet

European rare disease database

Orphanet:254516

GARD

Genetic and Rare Diseases Info Center

GARD:13431

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

motor developmental delay due to 14q32.2 paternally expressed gene defect

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

motor developmental delay due to 14q32.2 paternally expressed gene defect

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications