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distal monosomy 12q - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal monosomy 12q

MONDO:0019897

Also known as:distal deletion 12qdistal monosomy type 12qmonosomy 12qter

Overview

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: Delayed gross motor development, Flat face, Low-set ears, and Aplasia/Hypoplasia of the middle phalanx of the 3rd finger and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Delayed gross motor development, Hypernasal speech, Generalized tonic seizure
Head and neck	7	Flat face, Abnormal facial shape, High, narrow palate
Arms and legs	7	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Large hands, Long foot
Growth and development	4	Proportionate tall stature, Short stature, Growth delay
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Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:96149

GARD

Genetic and Rare Diseases Info Center

GARD:19328

Questions for Your Care Team

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distal monosomy 12q

Overview

Clinical Presentation

Explore clinical features

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team