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.
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What are the alternative names for Lissencephaly 2?
  • Lissencephaly 2
  • LIS2
  • Lissencephaly syndrome Norman-Roberts type
  • Norman Roberts lissencephaly syndrome
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What are the latest Lissencephaly 2 Clinical Trials?
Global Fukutin-Related Protein Registry

Summary: Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2i, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMDR9 is the most common FKRP-related condition, and is especially prevalent in Northern Europe. The aim is to facilitate a qu...

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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

What are the Latest Advances for Lissencephaly 2?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.