multiple congenital anomalies-hypotonia-seizures syndrome 2

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Disease Overview

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.


Synonyms

  • DEE20
  • GPIBD4
  • MCAHS type 2
  • MCAHS2
  • PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  • developmental and epileptic encephalopathy 20
  • epileptic encephalopathy, early infantile, 20
  • glycosylphosphatidylinositol biosynthesis defect 4
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive
  • multiple congenital anomalies-hypotonia-seizures syndrome type 2
  • multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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National Organization for Rare Disorders