The 20 Best X-Linked Creatine Deficiency Doctors Near Me in new haven, CT

Find the Top X-Linked Creatine Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 2 doctor with experience in X-Linked Creatine Deficiency near new haven, CT. Of these, 1 are Distinguished and 1 are Experienced.

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2 providers found
    Distinguished in X-Linked Creatine Deficiency

    Dr. Fady A. Hannah-Shmouni
    Internal Medicine
    Distinguished in X-Linked Creatine Deficiency

    Dr. Fady A. Hannah-Shmouni
    Internal Medicine

    Yale New Haven Hospital

    20 York St, 
    New Haven, CT 
     (0.5 miles away)
    203-688-2259
    Languages Spoken:
    English
    See accepted insurances

    Fady Hannah-Shmouni is a primary care provider, practicing in Internal Medicine in New Haven, Connecticut. Dr. Hannah-Shmouni is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses X-Linked Creatine Deficiency, Erdheim-Chester Disease, Non-Langerhans-Cell Histiocytosis, Carney Complex, and Hormone Replacement Therapy (HRT).

    Experienced in X-Linked Creatine Deficiency
    Experienced in X-Linked Creatine Deficiency
    Referral may be required

    Yale University

    1 Long Wharf Dr, 
    New Haven, CT 
     (1.3 miles away)
    203-764-9199
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients
    Offers Telehealth

    Michele Spencer-Manzon is a Medical Genetics provider practicing medicine in New Haven, Connecticut. Dr. Spencer-Manzon is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Maple Syrup Urine Disease, Tyrosinemia Type 2, Tyrosinemia Type 3, and Tyrosinemia Type 1. Dr. Spencer-Manzon is currently accepting new patients.

    Learn about our expert tiers
    Showing 1-2 of 2

    Last Updated: 09/26/2026

    What is the definition of X-Linked Creatine Deficiency?

    X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may grow slower and develop motor skills, such as sitting and walking, later than their peers. Affected individuals tend to tire easily.

    When should I see a X-Linked Creatine Deficiency doctor near new haven, CT?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a X-Linked Creatine Deficiency doctor near new haven, CT?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How do I find the best X-Linked Creatine Deficiency doctor near new haven, CT?

    You can find a X-Linked Creatine Deficiency doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank X-Linked Creatine Deficiency doctors near new haven, CT?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by X-Linked Creatine Deficiency doctors near new haven, CT?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a X-Linked Creatine Deficiency doctor near new haven, CT?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the X-Linked Creatine Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different X-Linked Creatine Deficiency doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a X-Linked Creatine Deficiency doctor near new haven, CT?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my X-Linked Creatine Deficiency doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my X-Linked Creatine Deficiency doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female X-Linked Creatine Deficiency doctors near new haven, CT?

    Look for the filter feature on the left side of the X-Linked Creatine Deficiency doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a X-Linked Creatine Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the X-Linked Creatine Deficiency doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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