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Condition report · Neurological

TMEM94-Related Intellectual Disability with Heart Defects

A rare developmental disorder causing developmental delay, intellectual disability, heart defects present at birth and distinctive facial features. It is caused by changes in both copies of the TMEM94 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies

Autosomal recessive

This condition is caused by changes in both copies of TMEM94, a gene that encodes a magnesium transporter in the endoplasmic reticulum; the reported changes stop the gene working.

Signs and symptoms

Global developmental delay and intellectual disability are present in all reported individuals. Congenital heart defects are present in nearly all reported individuals, and distinctive facial features are common.

What a diagnosis changes

Heart assessment by echocardiogram, with cardiology follow-up or surgery as needed, alongside developmental, educational and therapy support. Genetic counselling is recommended; parents are usually carriers, each future child has a 1 in 4 chance of being affected, and carrier testing can be offered to relatives.

Genes analysed

Also known as

IDDCDF; TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome

MONDO:0032672OMIM 618316Orphanet 562569MedGen 1675627Sources: [1][2][3]

References

  1. Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A et al., 2019. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. American journal of human genetics
  2. Al-Hamed MH, Alsahan N, Tulbah M, Kurdi W, Ali W, Sayer JA et al., 2021. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94. Genes
  3. Vishnu N, Venkatesan M, Madaris TR, Venkateswaran MK, Stanley K, Ramachandran K et al., 2024. ERMA (TMEM94) is a P-type ATPase transporter for Mg2+ uptake in the endoplasmic reticulum. Molecular cell

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