Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
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Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Overview

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What is the definition of Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome?
Hypoparathyroidism-intellectual disability-dysmorphism syndrome is a genetic disorder characterized by multiple anomalies and intellectual disability. Symptoms may include: hypoparathyroidism, delayed growth (growth restriction), seizures, microcephaly (small head size), differences in development of the face, eyes, and teeth, and shortened hands and feet. It is caused by genetic changes in the TBCE gene and is inherited in an autosomal recessive manner.
What are the alternative names for Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome?
  • Hypoparathyroidism-intellectual disability-dysmorphism syndrome
  • HRD syndrome
  • Hypoparathyroidism with short stature, intellectual disability and seizures
  • Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay
  • Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
  • Richardson-Kirk syndrome
  • SSS
  • Sanjad-Sakati syndrome
Who are the top Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Local Doctors?
Elite in Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Elite in Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Referral may be required
Ashdod, D, IL 

Odeya David practices practicing medicine in Ashdod, Israel. Ms. David is rated as an Elite expert by MediFind in the treatment of Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome, Deafness Hypogonadism Syndrome, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

Advanced in Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Internal Medicine
Advanced in Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Internal Medicine

Access Health & Avera Medical Group Family Health Center — Mitchell

1900 Grassland Dr, Suite 103, 
Mitchell, SD 
Languages Spoken:
English

Dr. Jon Olegario is an internal medicine physician at Avera Medical Group Internal Medicine Mitchell. Dr. Olegario is rated as an Advanced provider by MediFind in the treatment of Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Sitosterolemia, Renovascular Hypertension, and Chronic Cough. Dr. Olegario is board certified in American Board Of Internal Medicine.

 
 
 
 
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Advanced in Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Family Medicine
Advanced in Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Family Medicine

OSF Medical Group - Primary Care

210 Saint Joseph Drive, 
Bloomington, IL 
Languages Spoken:
English

Justin Holschbach is a primary care provider, practicing in Family Medicine in Bloomington, Illinois. Dr. Holschbach is rated as an Advanced provider by MediFind in the treatment of Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Low Sodium Level, Peptic Ulcer, Necrosis, and Colorectal Cancer. Dr. Holschbach is board certified in American Board Of Family Medicine.

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

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