Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of
elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a …

Background A new form of congenital hyperinsulinism characterized by hypoglycemia and
hyperammonemia was described recently. We hypothesized that this syndrome of …

Background Hypophosphatasia results from mutations in the gene for the tissue-nonspecific
isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates …

Birt-Hogg-Dubé syndrome (BHD), an inherited autosomal genodermatosis characterized by
benign tumors of the hair follicle, has been associated with renal neoplasia, lung cysts, and …

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 morbidity …

Limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild autosomal recessive myopathy
that was first described in the Manitoba Hutterite population. Previous studies in our …

Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare inborn disorder of l-lysine, l-hydroxylysine,
and l-tryptophan metabolism complicated by striatal damage during acute …

Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …

Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations
in the osteoblast-specific transcription factor CBFA1. To correlate CBFA1 mutations in …

Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic
disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic …