Profound global developmental delay

Vici syndrome is one of the most extensive inherited human multisystem disorders and due to recessive mutations in EPG5 encoding… (More)

Next-generation sequencing has accelerated the identification of disease genes in many rare genetic disorders including early… (More)

INTRODUCTION Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of… (More)

We present a 4-year-old girl with profound global developmental delay and refractory epilepsy characterized by multiple seizure… (More)

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)

Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric… (More)

We describe an 11 month old female with Prader-Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q… (More)

To the Editor : Pontocerebellar hypoplasias (PCH) is a heterogeneous group of rare autosomal recessive disorders characterized by… (More)

Statins are considered to be a standard treatment for hyperlipidemia. Central nervous system, limb and midline defects have been… (More)

The diagnosis of Angelman syndrome (AS) has seldom been made in infants because the previously described characteristic… (More)