Biallelic loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features.

Background: HMGXB4 (additionally known as HMG2L1) is a non-histone DNA-binding protein that contains a single HMG-box domain. HMGXB4 was originally described in Xenopus where it was seen to negatively regulate the Wnt/β-catenin signaling pathway.

Materials And Methods: In this study, we conducted a genetic and clinical evaluation of a single family with three affected individuals suffering from intellectual disability (ID), global developmental delay (GDD) and dysmorphic facial features.

Case Report: Clinical delineation of mutation: New cases and literature review.

Background: Calcium ions are involved in several human cellular processes; nevertheless, the relationship between calcium channelopathies (CCs) and autism spectrum disorder (ASD) or intellectual disability (ID) has been previously investigated. We delineate the spectrum of clinical phenotypes and the symptoms associated with a syndrome caused by an inherited gain-of-function mutation in in a family with a history of neuropsychiatric disorders. We also review the clinical and molecular phenotype of previously reported variants of .

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.

Human inborn errors of IFN-γ underlie mycobacterial disease, due to insufficient IFN-γ production by lymphoid cells, impaired myeloid cell responses to this cytokine, or both. We report four patients from two unrelated kindreds with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis, and without any known inborn error of IFN-γ. The patients are homozygous for variants (p.

Tetrasomy 18p: case report and review of literature.

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies.

Prevalence of diabetes mellitus and its relation with obesity in Turaif (Saudi Arabia) in 2017.

Background: The significant increase in the prevalence of obesity over past decades caused the concomitant rise in the incidence of glucose intolerance and diabetes.

Objective: To determine the prevalence of diabetes among Saudi nationals in Turaif, Kingdom of Saudi Arabia and to examine the association between diabetes and obesity in the studied population.

Methods: This study was conducted during the period from May 01 to May 31, 2017.

Epilepsy as a health problem among school children in Turaif, Northern Saudi Arabia, 2017.

Background: Epilepsy is the most common serious neurological disorder and is one of the world's most prevalent non-communicable diseases. There are no recently published data on the prevalence of epilepsy in school children in Northern Saudi Arabia.

Objective: This study was conducted to determine the prevalence of epilepsy and to show some of its risk factors in school children and adolescents (6-18 years) in Turaif city, Northern Saudi Arabia.