5q14.3 microdeletion syndrome is a genetic condition that affects development and movement. Many people with 5q14.3 microdeletion syndrome have low muscle tone, delayed sitting and walking, and significant speech delay. Seizures are common, and features a doctor may see include repetitive hand movements and differences in head growth. This condition is lifelong, and it is usually recognized in infancy or early childhood, but not everyone will have the same experience. Care focuses on supportive therapies, seizure management, and regular monitoring, and the outlook varies with symptom severity.
Overview
5q14.3 microdeletion syndromeSymptoms
5q14.3 microdeletion syndrome is usually noticed in infancy with developmental delays, low muscle tone, and poor feeding. Many have seizures, limited or absent speech, and repetitive hand movements. Other signs can include vision problems, sleep issues, and slow growth.
Outlook and prognosis
Most children with 5q14.3 microdeletion syndrome make developmental gains over time, especially with early therapies. Movement difficulties and communication delays can persist, but tailored supports help many improve comfort, learning, and participation. Life expectancy is often near typical when medical needs are managed.
Causes and risk factors
5q14.3 microdeletion syndrome results from a missing segment on chromosome 5, usually affecting MEF2C. Most cases are de novo; rarely, a parent carries a balanced rearrangement or mosaicism. Environment and lifestyle don’t cause it; recurrence risk depends on parental testing.
Genetic influences
Genetics are central in 5q14.3 microdeletion syndrome, because the condition results from a missing segment on chromosome 5. Most cases arise de novo, though parental testing can clarify recurrence risk. Variant size and genes lost influence severity and features.
Diagnosis
Doctors suspect 5q14.3 microdeletion syndrome based on clinical features and developmental history. The genetic diagnosis of 5q14.3 microdeletion syndrome is confirmed with chromosomal microarray or comparable genetic tests that detect the 5q14.3 deletion. Imaging may support evaluation.
Treatment and drugs
Treatment for 5q14.3 microdeletion syndrome focuses on building skills, easing symptoms, and supporting development. Care often includes early therapies (physical, occupational, speech), seizure management when needed, vision support, and feeding or sleep strategies. A coordinated team helps tailor goals over time.
Symptoms
5q14.3 microdeletion syndrome often shows up through how a child moves, learns, and communicates day to day. Early on, this might look like low muscle tone, slower motor milestones, or less eye contact and babbling than expected. Parents often ask about the early features of 5q14.3 microdeletion syndrome, which commonly include developmental delays, feeding difficulty, and seizures. Features can vary widely, and support can make a meaningful difference in daily life.
Babies may roll, sit, and walk later than peers. Learning new skills often takes extra time and practice. This is a core feature in 5q14.3 microdeletion syndrome.
Words may come slowly, and some children remain minimally verbal. Many communicate using gestures, pictures, or devices. Speech therapy can help build communication in everyday routines.
The body may feel floppy, making it harder to hold the head up or sit steadily. This can affect posture and stamina during play and feeding. Physical therapy often focuses on core strength.
Some children have episodes of staring, stiffening, or rhythmic movements. Seizures in 5q14.3 microdeletion syndrome can begin in infancy or early childhood. Care teams use EEG testing and medicines to help control them.
How people usually first notice 5q14.3 microdeletion syndrome?
Many families first notice 5q14.3 microdeletion syndrome in infancy when a baby seems unusually floppy (low muscle tone), feeds slowly, or isn’t meeting early milestones like steady head control or rolling. As months go by, doctors may spot distinctive features such as a small head size, unusual eye movements, or brief, repetitive movements, and developmental delay becomes clearer; some children also have seizures that prompt evaluation. These first signs of 5q14.3 microdeletion syndrome often lead to genetic testing to confirm the diagnosis.
Types of 5q14.3 microdeletion syndrome
People living with 5q14.3 microdeletion syndrome can share core features—such as developmental delay, differences in muscle tone, feeding challenges in infancy, seizures, and limited or absent speech—but the specifics vary from child to child. This condition stems from a small missing piece of chromosome 5 that often includes the MEF2C gene, and the exact size and genes involved help shape how symptoms show up and how severe they are. Clinicians often describe them in these categories: deletions that include MEF2C, deletions that spare MEF2C, and atypical or complex rearrangements. Knowing the types of 5q14.3 microdeletion syndrome can clarify likely early symptoms of 5q14.3 microdeletion syndrome and guide supportive care.
MEF2C-including deletions
These are the most common and usually involve the MEF2C gene within 5q14.3. Children often have moderate-to-severe developmental delay, low-to-variable muscle tone, limited speech, and a higher chance of seizures.
MEF2C-sparing deletions
The missing segment is nearby but does not include MEF2C. Developmental delay may still occur but can be milder, and seizures are less frequent compared with MEF2C-including deletions.
Atypical/complex rearrangements
The region is altered in a less typical way, such as combined deletions with adjacent duplications. Symptoms can be mixed, and severity varies depending on which genes are affected and the size of the change.
What genetics can tell you about symptoms
Some people with 5q14.3 microdeletion syndrome—often involving the MEF2C gene—have early, profound developmental delays, minimal or absent speech, low muscle tone, and seizures. This deletion disrupts brain “dimmer switch” control of nerve connections, linking gene loss to learning, movement, and epilepsy symptoms.
Causes and risk factors
5q14.3 microdeletion syndrome happens when a tiny piece of chromosome 5 is missing. Some risks are written in our DNA, passed down through families. Most cases start as a new change during egg or sperm formation and are not linked to parental actions or exposures. If a biological parent carries the same deletion, each pregnancy has about a 50% chance to inherit it. Other risk factors for 5q14.3 microdeletion syndrome are rare and include a parent with a balanced chromosome change, but lifestyle or environment have no proven role.
Environmental and biological risk factors
5q14.3 microdeletion syndrome happens when a small piece of chromosome 5 is missing from the q14.3 region before birth. Here we focus on what can raise the chance of it occurring, not the early symptoms of 5q14.3 microdeletion syndrome. Doctors often group risks into internal (biological) and external (environmental). Most cases arise as a one-time, chance change around conception, with no clear link to day-to-day exposures.
Older fathers have a slightly higher chance of new chromosome changes in sperm. For 5q14.3 microdeletion syndrome, any added risk appears small, and most babies with the condition are born to fathers of various ages. Risk increases gradually rather than at a single age cutoff.
As eggs age, the chance of chromosome changes rises, mainly for whole-chromosome conditions; effects on small microdeletions are less clear. For 5q14.3 microdeletion syndrome, any age-related increase appears modest at most. Most older mothers will not have a baby with this microdeletion.
When a parent’s chromosomes are arranged differently but balanced (a balanced rearrangement), the chance of a child having a deletion at 5q14.3 is higher. The parent is usually healthy, but this difference can lead to an unbalanced egg or sperm.
No specific environmental exposure has been shown to cause 5q14.3 microdeletion syndrome. Typical everyday exposures, like common air pollution or household products, have not been tied to this microdeletion. Research is ongoing and no clear trigger has been identified.
Genetic risk factors
Most cases arise when a small stretch of DNA on chromosome 5 (region 5q14.3) is missing, which disrupts how the nearby MEF2C gene works. Some risk factors are inherited through our genes. These changes usually happen for the first time in a child, but they can also be inherited or result from a parent’s balanced chromosome rearrangement or mosaicism. Genetic testing for 5q14.3 microdeletion syndrome can clarify the exact segment that is missing and how it may affect recurrence risk.
MEF2C gene loss: Most people with 5q14.3 microdeletion syndrome are missing one working copy of the MEF2C gene. This reduces the gene’s activity needed for brain and nerve development. It is considered the main genetic driver.
Regulatory region loss: Some deletions spare the MEF2C gene but remove control switches just upstream. Without these regulatory elements, MEF2C is turned down, leading to similar features. These are often called enhancer deletions.
Deletion size varies: The missing segment can be small or extend into neighboring genes around 5q14.3. Larger deletions may change the mix or severity of features. People with the same risk factor can have very different experiences.
Usually de novo: In most families, the deletion occurs as a new event in the egg, sperm, or very early after conception. Parents typically do not carry the deletion on standard blood testing.
Inherited deletion: Less often, the deletion is passed from an affected parent in an autosomal dominant pattern. Each child then has a 50% chance of inheriting the deletion. The severity can still vary.
Balanced rearrangement: Occasionally, a parent carries a balanced translocation involving 5q14.3 and has no symptoms. During conception, this can unbalance in a child, producing a 5q14.3 microdeletion. Parental chromosome studies can clarify this risk.
Parental mosaicism: Rarely, a parent carries the deletion in only some cells and may appear unaffected. This can raise recurrence risk for future pregnancies even when standard tests look normal. Specialized testing may be needed to detect low-level mosaicism.
Germline mosaicism: Even if both parents test negative in blood, a small fraction of their egg or sperm cells can carry the deletion. This makes recurrence possible but generally low. Genetic counseling can help estimate this for a family.
Lifestyle risk factors
Lifestyle habits do not cause 5q14.3 microdeletion syndrome, but day-to-day choices can influence symptoms, comfort, and complications. Understanding how lifestyle affects 5q14.3 microdeletion syndrome can help tailor routines that support motor skills, feeding safety, sleep, behavior, and bone health. The following items highlight lifestyle risk factors for 5q14.3 microdeletion syndrome that may worsen seizures, constipation, aspiration risk, or functional progress if not addressed.
Irregular or short sleep can lower seizure thresholds and worsen daytime irritability or stereotypies. Consistent sleep routines may support more stable behavior and seizure control.
Limited movement can aggravate hypotonia, delay motor progress, and increase constipation. Daily assisted mobility and play can help maintain strength and bowel regularity.
Fast pacing, large bites, or lying flat during meals increase choking and aspiration risk. Upright, slow, and texture-appropriate feeding can reduce coughing, reflux, and respiratory complications.
Low-fiber diets can worsen constipation common in this syndrome. Gradual fiber increases with tolerated foods may improve stool regularity and comfort.
Risk prevention
You can’t prevent 5q14.3 microdeletion syndrome itself, since it’s a genetic change present from birth. Prevention here means lowering the chance of complications and spotting issues early so care can start sooner. Prevention is about lowering risk, not eliminating it completely. Genetic counseling and thoughtful health monitoring can make day-to-day life safer and more comfortable.
A genetic counselor can explain recurrence risk and options for future pregnancies. They can also help relatives understand whether testing is useful.
Options may include prenatal testing during pregnancy or IVF with embryo testing. These choices are personal and guided by your values and local regulations.
Knowing early symptoms of 5q14.3 microdeletion syndrome can prompt timely therapies and medical checks. Early support may reduce feeding, mobility, or seizure-related complications.
Many with 5q14.3 microdeletion syndrome have seizures, so a written plan lowers risk from prolonged events. Avoiding common triggers, carrying rescue medicine, and regular follow-up can prevent emergencies.
Transmission
5q14.3 microdeletion syndrome is a genetic condition, not an infection, so it can’t be caught or spread between people. It happens when a small piece of chromosome 5 is missing; in most families this deletion occurs as a new change in the egg or sperm or very early after conception, not because of anything anyone did.
If a parent has the same microdeletion, 5q14.3 microdeletion syndrome is passed on in an autosomal dominant way—each pregnancy has a 50% (1 in 2) chance to inherit it. When both parents test negative for the deletion, the chance of it happening again is usually low, though a genetics team can explain how 5q14.3 microdeletion syndrome is inherited and discuss testing options for future pregnancies.
When to test your genes
Consider genetic testing if you or your child show features linked to 5q14.3 microdeletion syndrome—such as early low muscle tone, developmental delay, seizures, or unusual head growth—or if a close relative is affected. Testing can confirm the diagnosis, guide therapies, and inform surveillance plans. Prenatal or preconception testing may be considered when there’s a known family variant.
Diagnosis
Many families first notice slower motor milestones, feeding challenges, or seizures, which can prompt evaluation for 5q14.3 microdeletion syndrome. Doctors look for a pattern of features and then confirm it with genetic tests. The process brings together your child’s development, exam findings, and specific lab technologies to be sure. Early and accurate diagnosis can help you plan ahead with confidence.
A pediatrician or genetics specialist reviews growth, development, and any seizures or feeding issues. Characteristic facial features and muscle tone findings can raise suspicion for this condition.
Standardized tests measure motor, speech, and social skills. These results help document delays that are common in 5q14.3 microdeletion syndrome and guide early therapies.
A neurologist checks reflexes, muscle tone, and movement patterns. An EEG looks for abnormal brain activity that may explain seizures or unusual movements.
Imaging can show patterns like a thinner corpus callosum or simplified brain folds that support the diagnosis. MRI findings are not required but can help rule out other causes.
Stages of 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome does not have defined progression stages. It’s a lifelong genetic difference present from birth, so features like delayed development, low muscle tone, seizures, and limited speech can appear early and change over time, but they don’t move through set steps; early symptoms of 5q14.3 microdeletion syndrome often show up in infancy or the toddler years. Diagnosis is based on the pattern of developmental findings plus a chromosome microarray test that shows a small missing segment on chromosome 5; Genetic testing may be offered to clarify certain risks. Ongoing care usually involves regular developmental assessments, seizure monitoring (including EEG if needed), and eye evaluations, with follow-up to adjust therapies as needs change.
Outlook and prognosis
Looking at the long-term picture can be helpful. For many people with 5q14.3 microdeletion syndrome, progress happens, just more slowly and with extra support. Early symptoms of 5q14.3 microdeletion syndrome often include low muscle tone, delayed sitting or walking, and limited speech; with time, many children learn new skills, use assistive communication, and become more independent in daily routines. Seizures and feeding difficulties may come and go, and growth can be smaller than peers, but careful management typically stabilizes these issues.
Prognosis refers to how a condition tends to change or stabilize over time. In 5q14.3 microdeletion syndrome, life expectancy is usually near typical when seizures, breathing, and nutrition are well managed; deaths are uncommon in published reports and usually linked to severe complications like uncontrolled epilepsy or recurrent infections. Mobility and communication outcomes vary: some children walk with support and use a few words or devices, while others need ongoing wheelchair use and alternative communication. Learning differences tend to persist, yet many living with 5q14.3 microdeletion syndrome make steady gains in self-care, social engagement, and comfort with routines.
With ongoing care, many people maintain good health and quality of life into adolescence and adulthood. Therapies that start early—physical, occupational, speech, feeding, and vision—can shape the trajectory, and seizure control often improves the day-to-day picture. Genetic testing can sometimes provide more insight into prognosis, especially when the deletion size or involvement of the MEF2C region helps explain symptom severity, but not everyone with the same gene change will have the same outlook. Talk with your doctor about what your personal outlook might look like.
Long-term effects
Living with 5q14.3 microdeletion syndrome often means ongoing needs in development, movement, and communication across childhood and into adulthood. Long-term effects vary widely, and strengths and challenges can look different even within the same family. Here’s the long-term outlook for 5q14.3 microdeletion syndrome as understood from clinic experience and published reports. Many live into adulthood, with overall health shaped by seizures, feeding, mobility, and respiratory health over time.
Learning and motor skills typically remain delayed from infancy onward. Many need lifelong support for daily activities.
Speech often remains very limited or absent. Many communicate through sounds, gestures, or assistive tools.
Seizures are common and may start in early childhood. They can persist or change over time, with periods of better or worse control.
Early low muscle tone can shift to stiffness or spasticity. This can affect posture, balance, and ease of movement.
How is it to live with 5q14.3 microdeletion syndrome?
Daily life with 5q14.3 microdeletion syndrome often revolves around supporting developmental needs, especially motor skills, communication, and learning, while celebrating small but meaningful gains. Many families coordinate therapies, adaptive equipment, and school supports, and they may plan routines around feeding, sleep, and medical visits to manage seizures or muscle tone differences. This can be demanding for parents, siblings, and caregivers, yet many find a strong rhythm over time, build a reliable care team, and connect with communities who understand the journey. With consistent therapies, thoughtful accommodations, and patience, many children make steady progress and families find ways to balance care with play, rest, and everyday life.
Treatment and drugs
Treatment for 5q14.3 microdeletion syndrome focuses on easing symptoms, supporting development, and preventing complications through a coordinated care plan. Most children benefit from early intervention with physical, occupational, and speech therapy, along with feeding support if swallowing is difficult, and seizure management when epilepsy is present; medicines that ease seizures are called anti-seizure drugs. Your doctor may suggest vision and hearing checks, orthopedic care for scoliosis or joint issues, and assistive devices to improve mobility and communication. For many people, treatment begins with small daily steps, like home exercises, positioning strategies, and communication tools, guided by therapists. Not every treatment works the same way for every person, so care teams typically adjust therapies and medications over time based on progress, comfort, and goals.
Non-drug treatment
Daily life with 5q14.3 microdeletion syndrome often centers on building skills for movement, communication, feeding, and sleep. Alongside medicines, non-drug therapies can help children learn, stay safe, and participate more fully at home and school. Spotting early symptoms of 5q14.3 microdeletion syndrome can prompt early intervention, which often gives the best chance to support development.
A coordinated plan brings physical, occupational, and speech therapies into the week. Starting early can boost progress and guide families on next steps.
Exercises and play-based movement strengthen core and improve balance. This can help with head control, sitting, standing, and safer walking.
Skill-building focuses on hand use, self-care, and sensory processing. Therapists adapt tasks and tools so daily routines are easier.
Speech-language therapists work on understanding language and expression. Augmentative and alternative communication, like picture boards or speech-generating devices, gives a voice when spoken words are limited.
Your genes may have an impact on how drugs work for you
Some medicines work differently in people with 5q14.3 microdeletion syndrome because the deleted genes can alter brain signaling and how bodies process drugs. Clinicians often start with lower doses, adjust slowly, and watch closely for benefits and side effects.
Pharmacological treatments
Medicines for 5q14.3 microdeletion syndrome focus on easing day‑to‑day symptoms like seizures, muscle stiffness, sleep problems, reflux, and drooling. Drugs that target symptoms directly are called symptomatic treatments. There isn’t a single “best” drug for everyone, so choices are tailored to the person’s symptoms, age, and other health needs. Care is usually coordinated by neurology and rehabilitation teams, with input from sleep, gastrointestinal, and behavioral specialists.
Levetiracetam, valproate, lamotrigine, and clobazam are commonly used, with diazepam or midazolam for rescue during prolonged seizures. Plans are individualized, and seizure treatments for 5q14.3 microdeletion syndrome may change over time based on response and side effects. Not everyone responds to the same medication in the same way.
Baclofen (by mouth or via pump), tizanidine, or diazepam can loosen tight muscles and improve comfort and positioning. Botulinum toxin injections may help focal tightness in specific muscle groups.
Melatonin or clonidine at bedtime can help settle sleep–wake rhythms and reduce night awakenings. Trazodone may be considered if first options are not enough. Sometimes medicines are taken short-term (acute treatment), while others are used long-term (maintenance therapy).
Risperidone or aripiprazole can ease severe irritability or self‑injury when needed. For attention and hyperactivity, methylphenidate or guanfacine may be tried, with careful monitoring alongside seizure care.
Genetic influences
In 5q14.3 microdeletion syndrome, the underlying change is genetic: a tiny missing segment on chromosome 5 that usually includes genes important for brain development. Most cases happen as a new change in the egg or sperm and are not inherited from either parent. Less often, the microdeletion is passed down from a parent who also has it, or arises because a parent carries a balanced chromosome change. When a parent carries the deletion, each pregnancy has up to a 50% chance to inherit it; when it’s a brand-new change, the chance of it happening again is usually low. Chromosome testing of the child and parents can confirm the diagnosis and clarify recurrence risk, and knowing the genetic cause can help make sense of early symptoms of 5q14.3 microdeletion syndrome. To put these pieces together, doctors may suggest genetic counseling.
Is 5q14.3 microdeletion syndrome genetic?
Genetics are central in 5q14.3 microdeletion syndrome, because the condition results from a missing segment on chromosome 5. Most cases arise de novo, though parental testing can clarify recurrence risk. Variant size and genes lost influence severity and features.
Pharmacogenetics—how genetics influence drug effects
For 5q14.3 microdeletion syndrome, medicines usually target symptoms such as seizures, sleep problems, and muscle tone, and medication response in 5q14.3 microdeletion syndrome can vary from person to person. The chromosome change itself doesn’t yet point to a single best drug, so treatment is tailored to each person’s needs and seizure type. That said, other genes that control how the body breaks down medicines can influence which drug and dose are safest. Genetic testing can sometimes identify how your body processes certain anti-seizure or behavior medicines, which may help fine-tune dosing and reduce side effects. Well-established examples include certain liver enzymes (like CYP2C9 or CYP2C19) and immune markers (HLA types) guiding safer use and dosing of medicines such as phenytoin, carbamazepine, oxcarbazepine, and clobazam; people with East or Southeast Asian ancestry have a higher risk of severe skin reactions with carbamazepine if an HLA-B*15:02 marker is present, so screening is often recommended. For medicines sometimes used for behavior or sleep, such as certain SSRIs or atypical antipsychotics, differences in CYP2C19 or CYP2D6 may affect side effects and dose needs. Practical factors like feeding challenges, drug–drug interactions, and liver health also shape dosing, so pharmacogenetic results are used alongside clinical judgment.
Interactions with other conditions
Many living with 5q14.3 microdeletion syndrome also manage other health issues that can influence each other day to day. Doctors call it a “comorbidity” when two conditions occur together. Epilepsy, autism spectrum features, sleep problems, feeding difficulties with reflux, and constipation are common companions; when seizures or sleep are unsettled, learning, behavior, and therapy progress can slow for a time. Low muscle tone and movement challenges may be described as cerebral palsy, and when these occur alongside scoliosis or hip issues, breathing support and mobility plans often need extra attention. Respiratory infections or significant reflux can trigger more seizures or further disrupt sleep, so prevention and early treatment can make a real difference. Because early symptoms of 5q14.3 microdeletion syndrome can overlap with autism or even resemble Rett syndrome, close coordination among neurology, genetics, gastroenterology, and rehabilitation teams helps align care and reduce the chance of medication side effects or conflicting treatments.
How genes can cause diseases
Humans have more than 20,000 genes, each carrying out one or a few specific functions in the body. One gene instructs the body to digest lactose from milk, another tells the body how to build strong bones and another prevents the body's cells from beginning to multiply uncontrollably and developing into cancer. As all of these genes combined are the building instructions for our body, a defect in one of these genes can have severe health consequences.
Through decades of genetic research, we know the genetic code of any healthy/functional human gene. We have also identified that in certain positions on a gene, some individuals may have a different genetic letter from the one you have. We call these hotspots "Genetic Variations" or "Variants" in short. In many cases, studies have been able to show that having the genetic letter "G" in the position makes you healthy, but having the letter "A" in the same position disrupts the gene function and causes a disease. Genopedia allows you to view these variants in genes and summarizes all that we know from scientific research, which genetic letters (Genotype) have good or bad consequences on your health or on your traits.
History
Throughout history, people have described babies who seemed unusually floppy, stared past faces, or later showed striking, rhythmic hand movements that looked like clapping or flapping. Families and communities once noticed patterns that a child’s early milestones came late, and that seizures or vision concerns sometimes followed. Only in the last two decades did these observations connect to a small missing piece of chromosome 5, now known as 5q14.3 microdeletion syndrome.
First described in the medical literature as a handful of infants with profound developmental delays and similar facial features, the condition was initially pieced together from careful bedside notes and early brain scans. As medical science evolved, clinicians noticed that many children shared certain features: low muscle tone in infancy, feeding issues, later difficulties with movement and coordination, and sometimes sleep disturbance or seizures. Some also had eye-tracking problems or limited speech. These real-world clues guided doctors on where to look in the genome.
With the rise of higher-resolution chromosome testing in the 2000s, researchers could detect very small “missing segments” of DNA that older tools could not see. A recurring deletion on the long arm of chromosome 5, at region q14.3, emerged in multiple children with similar developmental patterns. From these first observations, labs began confirming that the deletion often included a gene important for brain development and visual attention. The science moved from “we see a pattern” to “we can pinpoint a shared genetic change.”
Over time, descriptions became more detailed and consistent. Reports broadened to include a range of outcomes, from children who learned to walk with support and use short phrases, to others with significant movement challenges and little spoken language. Clinicians also noted that some features resemble those seen in other neurodevelopmental conditions, which explains why earlier diagnoses were sometimes uncertain. Despite evolving definitions, the core picture—early low muscle tone, global developmental delays, possible seizures, and distinctive movements—has held steady.
In recent decades, knowledge has built on a long tradition of observation. Genetic testing panels and microarray analysis made it easier to identify 5q14.3 microdeletion syndrome in everyday clinical practice, often ending a long search for answers. This clearer genetic link also helped families find each other, compare experiences, and inform care plans. Looking back helps explain why earlier records seemed scattered: the signs were visible, but the genetic tools to tie them together had not yet arrived. Today, we recognize both the shared features and the wide variability, and we continue to refine our understanding as more children and adults with 5q14.3 microdeletion syndrome are followed over time.