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intellectual developmental disorder with abnormal behavior, microcephaly, and short stature - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

MONDO:0032687

Also known as:IDDABS

Overview

GeneticsAutosomal recessive · PUS7 (chr 7)

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: Intellectual disability, Global developmental delay, and Delayed speech and language development; and very common findings: Aggressive behavior and Microcephaly. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Aggressive behavior, Intellectual disability, Global developmental delay

Genetic Landscape

PUS7 function has not been fully characterized.

Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature is associated with mutations in the PUS7 gene on chromosome 7.

Diagnosis

Genetic testing for PUS7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 very common features, 33 common features.

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 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.

15 publications have been identified in PubMed for intellectual developmental disorder with abnormal behavior, microcephaly, and short stature. Research spans Case Report / Case Series (60%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	9

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618342

GARD

Genetic and Rare Diseases Info Center

GARD:18516

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications