Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria.
Untreated patients characteristically develop dystonia during infancy resulting in a high …

Recent epidemiological studies in Swedish school age children revealed a prevalence of
severe mental retardation (SMR= IQ< 50) of 0.3% and of mild mental retardation (MMR= IQ …

In 1995, a consensus statement was published for the purpose of summarizing the salient
clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and …

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include
growth and developmental delay and dysmorphism. Novel high resolution, whole genome …

Olegård, R., Sabel, K.‐G., Aronsson, M., Sandin, B., Johansson, PR Carlsson, C., Kyllerman,
M., Iversen, K. and Hrbek, A.(Departments of Paediatrics, East Hospital, University of …

Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal
recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia …

Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation
(XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and …

The aim of this study was to examine the prevalence of Angelman syndrome in prepubertal
school-aged children and analyze its comorbidity with autistic disorder. A clinical/psychiatric …

Glutaryl‐CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an
estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is …

Background: Alexander disease is most commonly associated with macrocephaly and, on
MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation …