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intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

MONDO:0018123

Also known as:autosomal recessive intellectual disability due to TRAPPC9 deficiency

Overview

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

Diagnosis

Biomarker and diagnostic research for intellectual disability-obesity-brain malformations-facial dysmorphism syndrome has been reported in the published literature.

Prognosis

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.

No clinical trials have been registered for intellectual disability-obesity-brain malformations-facial dysmorphism syndrome.

202 publications have been identified in PubMed for intellectual disability-obesity-brain malformations-facial dysmorphism syndrome. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Research Type	Count	% of Total
Patient case studies	55	33%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:352530

GARD

Genetic and Rare Diseases Info Center

GARD:21521

Questions for Your Care Team

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intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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