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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?
Cheng Her
Advanced in Athabaskan Brain Stem Dysgenesis
Family Medicine
Advanced in Athabaskan Brain Stem Dysgenesis
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a Family Medicine provider in La Crosse, Wisconsin. Dr. Her and is rated as an Advanced provider by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. His top areas of expertise are Hypomelanosis of Ito, Familial Hypertriglyceridemia, Jackson-Weiss Syndrome, and Koolen De Vries Syndrome.

Advanced in Athabaskan Brain Stem Dysgenesis
Hematology Oncology | Hematology | Oncology
Advanced in Athabaskan Brain Stem Dysgenesis
Hematology Oncology | Hematology | Oncology

Prisma Health University Medical Group

22725 Hwy 76 E, 
Clinton, SC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Christopher Thomas is a Hematologist Oncology specialist and a Hematologist in Clinton, South Carolina. Dr. Thomas and is rated as an Advanced provider by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. His top areas of expertise are Childhood Iron Deficiency Anemia, Colorectal Cancer, Iron Deficiency Anemia, and Familial Colorectal Cancer. Dr. Thomas is currently accepting new patients.

 
 
 
 
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Experienced in Athabaskan Brain Stem Dysgenesis
Experienced in Athabaskan Brain Stem Dysgenesis

University Of Alabama Health Services Foundation, PC

2000 6th Ave S, 
Birmingham, AL 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Fernando Ovalle is an Endocrinologist in Birmingham, Alabama. Dr. Ovalle and is rated as an Experienced provider by MediFind in the treatment of Athabaskan Brain Stem Dysgenesis. His top areas of expertise are Type 1 Diabetes (T1D), Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Low Blood Sugar, and Islet Cell Transplantation. Dr. Ovalle 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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Who are the sources who wrote this article ?

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