GENE GUIDE

MBOAT7-Related Syndrome

This guide is not meant to take the place of medical advice. Please consult with your doctor about your genetic results and health care choices. This Gene Guide was last updated in 2025. As new information comes to light with new research we will update this page. You may find it helpful to share this guide with friends and family members or doctors and teachers of the person who has MBOAT7-Related Syndrome.
a doctor sees a patient

MBOAT7-related syndrome is also called intellectual developmental disorder, autosomal recessive 57. For this webpage, we will be using the name MBOAT7-related syndrome to encompass the wide range of variants observed in the people identified.

MBOAT7-related syndrome happens when there are changes in both copies of the MBOAT7 gene. These changes can keep the gene from working as it should.

Key Role

The MBOAT7 gene is important for mitochondria, which produce the energy that cells need to do work.

Because the MBOAT7 gene is important for the brain, some people may have:

  • Developmental delay
  • Intellectual disability
  • Autism
  • Low muscle tone, also called hypotonia
  • Walking issues
  • Inability to move the lower parts of the body, also called paraplegia
  • Speech difficulties
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)

MBOAT7-related syndrome is a genetic condition, which means that it is caused by variants in genes. Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets two copies of the MBOAT7 gene: one copy from their mother’s egg, and one copy from their father’s sperm.

Some people have variants to their genes that prevent them from working properly. A variant in one copy of the MBOAT7 gene has little or no effect on their health — because one working copy is enough. People who have one working copy of the gene and one non-working copy of the gene are called ‘carriers’. Some people have genes where both copies do not work as they should. In these cases, the person has inherited non-working copies of the gene from both parents. This can lead to physical issues, developmental issues, or both.

Autosomal recessive conditions

MBOAT7-related syndrome can also be an autosomal recessive genetic condition. To be affected with symptoms of an autosomal recessive genetic condition, a person has two damaging variants on both copies of their MBOAT7. For someone with an autosomal recessive genetic syndrome, every time they have a child they will pass on one non-working copy of MBOAT7.

Autosomal Recessive Genetic Syndrome

GENE / gene
Carrier
father
GENE / gene
Carrier
mother
gene / gene
Non-carrier child
GENE / gene
Carrier of the variant
GENE / gene
Carrier of the variant
GENE / GENE
Child with autosomal recessive condition

Why does my child have a change in the MBOAT7 gene?

No parent causes their child’s MBOAT7-related syndrome. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.

  • The risk of the same biological parents to a child with an autosomal recessive genetic condition, having another child who has MBOAT7-related syndrome is almost always 25 percent.
  • The chance of two carrier parents having a child who is also a carrier is 50 percent. Carriers are not expected to have symptoms.
  • The chance of them having a child who is not a carrier at all is 25 percent.

For a person who has MBOAT7-related syndrome, the risk of having a child who has the same syndrome depends on their partner.

  • If their partner is a carrier, they have a 50 percent chance of having a child who has the syndrome and a 50 percent chance of having a child who is a carrier.
  • If their partner is not a carrier, they have nearly a 0 percent chance of having a child who has the syndrome and a 100 percent chance of having a child who is a carrier.

As of 2025, about 63 people with MBOAT7-related syndrome have been identified in medical research.

Most people who have MBOAT7-related syndrome do not look different. Some people have a smaller or larger than average head size.

Scientists and doctors have only just begun to study MBOAT7-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

  • Physical exams and brain studies.
  • Genetics consults.
  • Development and behavior studies.
  • Other issues, as needed.

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

  • Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
  • Guide individualized education plans (IEPs).

Specialists advise that therapies for MBOAT7-related syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: www.epilepsy.com/learn/types-seizures.

This section includes a summary of information from published articles. It highlights how many people have different symptoms. To learn more about the article, see the Sources and References section of this guide.

Speech and learning

People with MBOAT7-related syndrome had developmental delays or intellectual disabilities, and speech delays or impairment.

  • 62 out of 66 people had developmental delays or intellectual disabilities (94 percent)
  • 60 out of 66 people had speech delays or impairment (91 percent)
94%
62 out of 66 people had developmental delays or intellectual disabilities
91%
60 out of 66 people had speech delays or impairment

Behavior

More than one-half of people with MBOAT7-related syndrome had behavioral issues, such as autism and attention-deficit/hyperactivity disorder (ADHD).

  • 30 out of 52 people had autism or attention-deficit/hyperactivity disorder (58 percent)

Brain

People with MBOAT7-related syndrome had neurological issues, including brain changes seen on magnetic resonance imaging (MRI), seizures, lower than average muscle tone (hypotonia), and either a smaller than average head size (microcephaly) or a larger than average head size (macrocephaly).

  • 34 out of 53 people had brain changes seen on MRI (64 percent)
  • 52 out of 61 people had seizures (85 percent)
  • 48 out of 50 people had hypotonia (96 percent)
  • 15 out of 52 people had microcephaly or macrocephaly (29 percent)
Human head showing brain outline

Brain changes seen on MRI included polymicrogyria, cortical atrophy, cerebellar dysgenesis, and hyperintensity of globus pallidus and dentate nuclei.

  • 3 out of 48 people had polymicrogyria (6 percent)
  • 15 out of 48 people had cortical atrophy (31 percent)
  • 9 out of 48 people had cerebellar dysgenesis (19 percent)
  • 8 out of 48 people had hyperintensity of globus pallidus and dentate nuclei (17 percent)

Mobility

Some people with MBOAT7-related syndrome had poor coordination or a loss of muscle coordination and balance (ataxia).

  • 25 out of 51 people had poor coordination or ataxia (49 percent)

Weight

One in four people with MBOAT7-related syndrome had obesity.

  • 5 out of 20 people had obesity (25 percent)

Vision

People with MBOAT7-related syndrome had vision issues such as crossed eyes (strabismus), retinal degeneration, or optic atrophy.

  • 10 out of 21 people had vision issues (48 percent)

Where can I find support and resources?

Simons Searchlight

Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”

Sources and References

The content in this guide comes from a published study about MAOA-related syndrome.

  • Kousa, A., Ahmed, R., & Alasmar, P. D. (2024). Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: A case report on neurodevelopmental phenotypes and mitochondrial inheritance. Annals of Medicine & Surgery (Lond), 86(5), 3086-3089. https://pmc.ncbi.nlm.nih.gov/articles/PMC11060275/
  • Lee, J., Shamim, A., Park, J., Jang, J. H., Kim, J. H., Kwon, J. Y., Kim, J. W., Kim, K. K., & Lee, J. (2022). Functional and structural changes in the membrane-bound O-acyltransferase family member 7 (MBOAT7) protein: The pathomechanism of a novel MBOAT7 variant in patients with intellectual disability. Frontiers in Neurology, 13, 836954. https://pmc.ncbi.nlm.nih.gov/articles/PMC9058081/
  • Li, H., Qi, Z., Xie, L., Hao, C., & Li, W. (2024). The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants. Molecular Genetics & Genomic Medicine, 12(2), e2391. https://pmc.ncbi.nlm.nih.gov/articles/PMC10844841/
  • Ronzoni, L., Mureddu, M., Malvestiti, F., Moretti, V., Bianco, C., Periti, G., Baldassarri, M., Ariani, F., Carrer, A., … & Valenti, L. (2023). Liver involvement in patients with rare MBOAT7 variants and intellectual disability: A case report and literature review. Genes (Basel), 14(8), 1633. https://pmc.ncbi.nlm.nih.gov/articles/PMC10454727/

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