Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized
by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal …

Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can
occur in otherwise healthy children after common viral infections such as influenza and …

Background Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks
down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial …

This study reports the clinical features of 63 patients with agenesis of the corpus callosum
who received in-depth genetic, clinical, and laboratory testing with the aim to contribute to a …

Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder
associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B …

We report on a clinical‐genetic study of 16 Wolf‐Hirschhorn syndrome (WHS) patients.
Hemizygosity of 4p16.3 was detected by conventional prometaphase chromosome analysis (11 …

GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1)
deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000–1…

Stüve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized
by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened …

Myhre syndrome (MIM 139210) is a developmental disorder characterized by short stature,
short hands and feet, facial dysmorphism, muscular hypertrophy, deafness and cognitive …