Profound global developmental delay

Known as: Global developmental delay, profound 
A profound delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]
National Institutes of Health

Topic mentions per year

Topic mentions per year

1991-2018
01219912018

Papers overview

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2017
2017
Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding… (More)
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2016
2016
Next-generation sequencing has accelerated the identification of disease genes in many rare genetic disorders including early… (More)
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2016
2016
INTRODUCTION Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of… (More)
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2014
2014
We present a 4-year-old girl with profound global developmental delay and refractory epilepsy characterized by multiple seizure… (More)
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2014
2014
AL is an 8-year old girl who presented with a 4-year history of impairments in all aspects of the autistic triad: social… (More)
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Review
2014
Review
2014
Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric… (More)
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2013
2013
We describe an 11 month old female with Prader-Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q… (More)
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2010
2010
To the Editor : Pontocerebellar hypoplasias (PCH) is a heterogeneous group of rare autosomal recessive disorders characterized by… (More)
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2009
2009
Statins are considered to be a standard treatment for hyperlipidemia. Central nervous system, limb and midline defects have been… (More)
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1991
1991
The diagnosis of Angelman syndrome (AS) has seldom been made in infants because the previously described characteristic… (More)
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