Wiedemann‐Steiner syndrome (WSS) is a rare syndromic condition in which intellectual
disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies …

Three forms of X–linked spastic paraplegia (SPG) have been defined. One locus (SPG 1)
maps to Xq28 while two clinically distinct forms map to Xq22 (SPG2). A rare X–linked …

Frontotemporal dementia and parkinsonism (FTDP) is the second most common cause of
neurodegenerative dementia after Alzheimer's disease. Recently, several kindreds with an …

We recently identified mutations of ARX in nine genotypic males with X‐linked lissencephaly
with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the …

Background: The chromosome 17q21. 31 microdeletion syndrome is a novel genomic
disorder that has originally been identified using high resolution genome analyses in …

Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …

Background Over the last few years, array-comparative genomic hybridisation (CGH) has
considerably improved our ability to detect cryptic unbalanced rearrangements in patients …

Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results
from a defect of neuronal migration. It is characterized by the absence of gyri and a …

Background: Malformations are a major cause of morbidity and mortality in full term infants
and genomic imbalances are a significant component of their aetiology. However, the …

Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include
heterozygous missense, truncating variants and 2p25. 3 microdeletions and cause a …