The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically valid …

Smith–Lemli–Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability
syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7‐…

Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized
by growth retardation, cognitive impairment, external and internal structural malformations, …

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem
developmental disorder characterized by growth and cognitive retardation; abnormalities of …

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease
characterized by thymine-uraciluria in homozygous deficient patients. Cancer patients with a …

Baraitser–Winter, Fryns–Aftimos and cerebrofrontofacial syndrome types 1 and 3 have
recently been associated with heterozygous gain-of-function mutations in one of the two …

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant
condition caused by mutations in MYH3 and characterized by multiple congenital …

We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149,
p.Arg1276, or p.Lys1423, representing three nontruncating NF1 hotspots in the University …

Brain malformations are individually rare but collectively common causes of developmental
disabilities 1 , 2 , 3 . Many forms of malformation occur sporadically and are associated with …

Copy-number variants (CNVs) represent a significant interpretative challenge, given that each
CNV typically affects the dosage of multiple genes. Here we report on five individuals with …