Abstract In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual
disability (ARID) in a large consanguineous family comprising seven affected individuals …

Mutations in the KIAA2022 gene have been implicated in non‐syndromic X‐linked
intellectual disability. Thus far, all carrier females reported have been unaffected and …

Intellectual disability (ID) is characterized by significant limitations in both intellectual
functioning and adaptive behaviors, originating before the age of 18 years. However, the …

WAC‐related intellectual disability (ID) is a rare genetic condition characterized by a
spectrum of neurodevelopmental disorders of varying severity, including global …

Abstract Background Copy number variants (CNVs) associated with developmental delay
and intellectual disability (DD/ID) continue to be identified in patients. This article reports …

Next‐generation sequencing has enabled the screening for a causative mutation in X‐linked
intellectual disability (XLID). We identified KIAA2022 mutations in two unrelated male …

E ditor—Isolated cytochrome c oxidase (COX) deficiency is one of the most frequent causes
of respiratory chain defects in humans 1 and results in a variety of clinical manifestations …

Recessive variants in WASHC4 are linked to intellectual disability complicated by poor
language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is …

Existence of a discrete new X-linked intellectual disability (XLID) syndrome due to KIAA2022
deficiency was questioned by disruption of KIAA2022 by an X-chromosome pericentric …

Background Malformations of cortical development are not rare and cause a wide spectrum
of neurological diseases based on the affected region in the cerebral cortex. A significant …