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fallot complex-intellectual disability-growth delay syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fallot complex-intellectual disability-growth delay syndrome

MONDO:0010999

Also known as:Bindewald-Ulmer-Müller syndromeBindewald Ulmer Muller syndromeFALLOT complex with severe mental and growth retardation

Overview

Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.

GeneticsAutosomal recessive

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: Protruding ear, Severe failure to thrive, and Profound intellectual disability; and common findings: Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, and Cryptorchidism and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Abnormality of the face, High palate, Microcephaly

Diagnosis

Biomarker and diagnostic research for fallot complex-intellectual disability-growth delay syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 14 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.

No clinical trials have been registered for fallot complex-intellectual disability-growth delay syndrome.

163 publications have been identified in PubMed for fallot complex-intellectual disability-growth delay syndrome. Research spans Review / Meta-Analysis (61%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Research summaries	100	61%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601127

Orphanet

European rare disease database

Orphanet:3304

GARD

Genetic and Rare Diseases Info Center

GARD:893

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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fallot complex-intellectual disability-growth delay syndrome

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

fallot complex-intellectual disability-growth delay syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications