Athabaskan Brain Stem Dysgenesis
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Learn About Athabaskan Brain Stem Dysgenesis

What is the definition of Athabaskan Brain Stem Dysgenesis?
Human HOXA1 Syndromes are very rare disorders present at birth mainly affecting the development of the ears, eyes, and cardiovascular system. The main symptoms include inability to move the eyes to the sides (horizontal gaze paralysis), deafness, and birth defects involving blood flow in and out of the heart. Human HOXA1 Syndromes have been described in Native American populations (primarily the Navajo and Apache Indians) and in a few Saudi Arabian and Turkish families. Symptoms may vary by population. Human HOXA1 Syndromes are caused by genetic changes (DNA variants) in the HOXA1 gene and inherited in an autosomal recessive pattern. Diagnosis is made based on the symptoms and confirmed by genetic testing.
What are the alternative names for Athabaskan Brain Stem Dysgenesis?
  • Human HOXA1 Syndromes
  • ABDS
  • Athabaskan Brainstem Dysgenesis
  • Athabaskan Brainstem Dysgenesis Syndrome
  • BSAS
  • Bosley Salih Alorainy syndrome
  • Navajo brainstem syndrome
Who are the top Athabaskan Brain Stem Dysgenesis Local Doctors?
Experienced in Athabaskan Brain Stem Dysgenesis
Experienced in Athabaskan Brain Stem Dysgenesis
Referral may be required

Indian River Health Services Inc

3555 10th Ct, Suite 200a, 
Vero Beach, FL 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.

Experienced in Athabaskan Brain Stem Dysgenesis
Family Medicine
Experienced in Athabaskan Brain Stem Dysgenesis
Family Medicine

Reading Hospital

420 South 5th Avenue, 
West Reading, PA 
Languages Spoken:
English
Accepting New Patients

Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine. Dr. Chelius is currently accepting new patients.

 
 
 
 
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Experienced in Athabaskan Brain Stem Dysgenesis
Family Medicine
Experienced in Athabaskan Brain Stem Dysgenesis
Family Medicine

University Hospitals Coordinated Care

3605 Warrensville Center Rd, 
Beachwood, OH 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Samantha Kiefer is a primary care provider, practicing in Family Medicine in Beachwood, Ohio. Dr. Kiefer is rated as an Experienced provider by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Maturity Onset Diabetes of the Young, and High Cholesterol. Dr. Kiefer is currently accepting new patients.

What are the latest Athabaskan Brain Stem Dysgenesis Clinical Trials?
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Summary: The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center