Background Intellectual disability (ID) is a neurodevelopmental disorder affecting 1%–3% of
the population worldwide. It is characterised by high phenotypic and genetic heterogeneity …

Abstract Mis‐secreted glycoproteins (LGI1, reelin) are emerging causes of epilepsy.
LMAN2L belongs to a glycoprotein secretion chaperone family. One recessive LMAN2L …

Background Intellectual disability (ID) is both a clinically diverse and genetically
heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 …

We have used genome-wide genotyping to identify an overlapping homozygosity-by-
descent locus on chromosome 9q34. 3 (MRT15) in four consanguineous families affected by …

Intellectual disability (ID), occurs in approximately 1 to 3% of the population and tends to be
higher in low-income countries and in inbred communities. Despite the high rates of …

Biallelic pathogenic variants in LAMB1 have been associated with autosomal recessive
lissencephaly 5 (OMIM 615191), which is characterized by brain malformations …

Combined deficiency of coagulation factors V and VIII (F5F8D) is an autosomal recessive
bleeding disorder caused by loss-of-function mutations in either LMAN1 or MCFD2. The …

Purpose To elucidate the novel molecular cause in two unrelated consanguineous families
with autosomal recessive intellectual disability. Methods A combination of homozygosity …

Background Neurological disorders are a common cause of morbidity and mortality within
Pakistani populations. It is one of the most important challenges in healthcare, with …

Background The number of reported genes causing non‐syndromic autosomal recessive
intellectual disability (NS‐ARID) is increasing. For example, mutations in the ST3GAL3 gene …