Barakat-Perenthaler syndrome
id:
barakat-perenthaler-syndrome-206-15981166
title:
Barakat-Perenthaler syndrome
text:
Barakat-Perenthaler syndrome is a rare neurodevelopmental genetic disorder, presenting with a severe epileptic encephalopathy, developmental delay, Intellectual disability, progressive microcephaly and visual disturbance. It is listed by the standard reference, Online Mendelian Inheritance in Man (OMIM) as #618744. and classified as EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83. It was first described in 2019 by Dr. Stefan Barakat and his team at the Erasmus University Medical Center in
brand slug:
wiki
category slug:
encyclopedia
description:
original url:
https://en.wikipedia.org/wiki/Barakat-Perenthaler_syndrome
date created:
2020-04-11T13:27:46Z
date modified:
2024-09-10T21:34:36Z
main entity:
{"identifier":"Q96373135","url":"https://www.wikidata.org/entity/Q96373135"}
image:
fields total:
13
integrity:
14