X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. [1] . Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms.

This review focuses on the current knowledge on the XLID genes involved in non-syndromic forms, with the emphasis on their pathogenic mechanism, thus allowing the possibility to elucidate why some of them can give both syndromic and non-syndromic phenotypes.

Although the pace of discovery of new XLID genes has slowed during the past 5 years, the density of genes on the X chromosome that cause intellectual disability still appears to be twice the density of intellectual disability genes on the autosomes. Keywords: X-chromosome; genes; intellectual disability. © 2022 Wiley Periodicals LLC.

2024年11月25日 · X连锁智力障碍综合征（X-linked syndromic intellectual disability, XLID）是一组由X染色体上的基因突变引起的遗传性疾病，主要表现为智力障碍和其他多种临床症状。这类综合征通常由X染色体上的单基因突变引起，且由于X染色体的性连锁特性，男性患者更为常见。

New X-linked intellectual disability syndromes, new gene localizations, revised gene localizations, and gene identifications are presented in abbreviated form with appropriate references. Five graphics (1A, 1B, 1C, 2, 3) show syndromal XLID genes, IDX genes, and linkage limits. A table gives gene identifications in chronological order. II. III. IV.

X-linked intellectual disability (XLID) affects 1 to 3% of the population (Bhasin et al., 2006; Larson et al., 2001; van Bokhoven and Kramer, 2010). Clinically, XLID is characterized by a deficit in intellectual function with an intelligence quotient (IQ) of < 70 before the age of 18 and impairment of adaptive behaviors leading to deficient ...

X-Linked intellectual disability (XLID) accounts for 5%–10% of intellectual disability in males. Over 150 syndromes, the most common of which is the fragile X syndrome, have been described. A large number of families with nonsyndromal XLID, 95 of ...

Background: X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. In this study, we aimed to describe the clinical and molecular spectrum of patients with XLID. We also evaluated the clinical efficacy of a targeted gene panel in …

2015年2月3日 · In this study, we aimed to (i) identify the molecular causes of XLID in a large group of unresolved families, (ii) define the number of XLID genes that can be identified by performing targeted...

XLID comprises a group of genetic conditions in which the causative gene mutation is located on the X chromosome. Because males have a single X chromosome, XLID predominantly affects males and is often passed through an unaffected carrier mother.