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intellectual developmental disorder with cardiac defects and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with cardiac defects and dysmorphic facies

MONDO:0032672

Also known as:TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndromeIDDCDF

Overview

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.

GeneticsAutosomal recessive · TMEM94 (chr 17)

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: Specific learning disability, Hypertrichosis, Large earlobe, and Highly arched eyebrow and others; and very common findings: Short nose, Low-set ears, Motor delay, and Depressed nasal bridge. 58 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Bilateral tonic-clonic seizure, Specific learning disability, Global developmental delay

Genetic Landscape

TMEM94 function has not been fully characterized.

Intellectual developmental disorder with cardiac defects and dysmorphic facies is caused by mutations in the TMEM94 gene on chromosome 17.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for TMEM94 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder with cardiac defects and dysmorphic facies has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 4 very common features, 7 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 intellectual developmental disorder with cardiac defects and dysmorphic facies.

131 publications have been identified in PubMed for intellectual developmental disorder with cardiac defects and dysmorphic facies. Kisho has analyzed 74 by research type. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (31%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	26

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618316

Orphanet

European rare disease database

Orphanet:562569

GARD

Genetic and Rare Diseases Info Center

GARD:17998

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 cardiac defects and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

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

intellectual developmental disorder with cardiac defects and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

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