New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …

Intellectual disability (ID) is the leading socio-economic problem of health care, but
compared to autism and schizophrenia, it has received very little public attention. Important …

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …

Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

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 …

1. Microcephaly is a clinical finding, not a 'disease', and is a crude but trusted assessment of
intracranial brain volume. 2. Developmental processes reducing in utero neuron generation …

The term neurodevelopmental disorder encompasses a wide range of diseases, including
recognizably distinct syndromes known to be caused by very rare mutations in specific …

Structural chromosomal rearrangements can lead to a wide variety of serious clinical
manifestations, including mental retardation (MR) and congenital malformations. Over the …

Structural variation (SV) represents a major source of differences between individual human
genomes and has been linked to disease phenotypes. However, the majority of studies …

Background Chromosome 17p13. 3 contains extensive repetitive sequences and is a
recognised region of genomic instability. Haploinsufficiency of PAFAH1B1 (encoding LIS1) …