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Learn About Lissencephaly 2

View Main Condition: Lissencephaly

What is the definition of Lissencephaly 2?
Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion. Genetic changes in the RELN gene have been identified in some affected individuals.
What are the alternative names for Lissencephaly 2?
  • Lissencephaly 2
  • LIS2
  • Lissencephaly syndrome Norman-Roberts type
  • Norman Roberts lissencephaly syndrome
Who are the top Lissencephaly 2 Local Doctors?
Elite in Lissencephaly 2
Medical Genetics | Pediatrics | Pediatric Neurology
Elite in Lissencephaly 2
Medical Genetics | Pediatrics | Pediatric Neurology

Fairview Express Care

2450 Riverside Ave, 
Minneapolis, MN 
Experience:
47+ years
Languages Spoken:
English
Accepting New Patients

William Dobyns is a Medical Genetics specialist and a Pediatrics provider in Minneapolis, Minnesota. Dr. Dobyns has been practicing medicine for over 47 years and is rated as an Elite provider by MediFind in the treatment of Lissencephaly 2. His top areas of expertise are Increased Head Circumference, Lissencephaly, Cerebellar Hypoplasia, and Cortical Dysplasia. Dr. Dobyns is currently accepting new patients.

Elite in Lissencephaly 2
Elite in Lissencephaly 2
Tel Aviv, TA, IL 

Tally Sagie-Lerman practices in Tel Aviv, Israel. Sagie-Lerman is rated as an Elite expert by MediFind in the treatment of Lissencephaly 2. Their top areas of expertise are Lissencephaly 2, Agyria Pachygyria Polymicrogyria, Microcephaly, and Achalasia Microcephaly Syndrome.

 
 
 
 
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Elite in Lissencephaly 2
Elite in Lissencephaly 2
Haifa, HA, IL 

Zvi Leibovitz practices in Haifa, Israel. Mr. Leibovitz is rated as an Elite expert by MediFind in the treatment of Lissencephaly 2. His top areas of expertise are Lissencephaly 2, Agyria Pachygyria Polymicrogyria, Achalasia Microcephaly Syndrome, and Microcephaly.

What are the latest Lissencephaly 2 Clinical Trials?
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Summary: Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment...

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Congenital Muscle Disease Patient and Proxy Reported Outcome Study

Summary: The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and bec...

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