Borjeson-Forssman-Lehmann Syndrome
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Borjeson-Forssman-Lehmann Syndrome Overview

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Learn About Borjeson-Forssman-Lehmann Syndrome

What is the definition of Borjeson-Forssman-Lehmann Syndrome?
Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by genetic changes in the PHF6 gene on the X chromosome. This genetic change is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.
What are the alternative names for Borjeson-Forssman-Lehmann Syndrome?
  • Borjeson-Forssman-Lehmann syndrome
  • BFLS
  • BORJ
  • Borjeson Syndrome
  • Intellectual deficiency-epilepsy-endocrine disorders syndrome
  • Intellectual disability-epilepsy-endocrine disorders syndrome
  • Mental deficiency, epilepsy and endocrine disorders
Who are the top Borjeson-Forssman-Lehmann Syndrome Local Doctors?
Elite in Borjeson-Forssman-Lehmann Syndrome
Christiane Zweier
Elite in Borjeson-Forssman-Lehmann Syndrome
Christiane Zweier
Erlangen, BY, DE 

Christiane Zweier practices practicing medicine in Erlangen, Germany. Ms. Zweier is rated as an Elite expert by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. She is also highly rated in 18 other conditions, according to our data. Her clinical expertise encompasses Borjeson-Forssman-Lehmann Syndrome, Achalasia Microcephaly Syndrome, Microcephaly, and Increased Head Circumference.

Experienced in Borjeson-Forssman-Lehmann Syndrome
Dr. Jennifer A. Jonkers
Internal Medicine
Experienced in Borjeson-Forssman-Lehmann Syndrome
Dr. Jennifer A. Jonkers
Internal Medicine

Abingdon Internal Medicine

322 East Valley Street, 
Abingdon, VA 
276-628-1106
Languages Spoken:
English
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. Dr. Jonkers is rated as an Experienced provider by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma. Dr. Jonkers is board certified in  .

 
 
 
 
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Distinguished in Borjeson-Forssman-Lehmann Syndrome
Heinrich Sticht
Distinguished in Borjeson-Forssman-Lehmann Syndrome
Heinrich Sticht
Erlangen, BY, DE 

Heinrich Sticht practices practicing medicine in Erlangen, Germany. Mr. Sticht is rated as a Distinguished expert by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Cytomegalovirus Infection, and Cortical Dysplasia.

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