Rare Disease Intelligence

Methylmalonic aciduria, cblB type is an inherited metabolic disorder affecting multiple organ systems, most the metabolic and cardiovascular systems,...

Mevalonate kinase deficiency is a condition that arises from alterations in the MVK gene, which plays a critical role in metabolic pathways. Although...

Mevalonic aciduria is a severe metabolic condition that falls within the spectrum of mevalonate kinase deficiency and affects multiple organ systems,...

Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a disorder affecting bone development and overall growth, with characteristic abnormaliti...

Microcephalic osteodysplastic primordial dwarfism is a condition characterized by significant growth restriction and abnormal head size. Although deta...

Microcephalic osteodysplastic primordial dwarfism type I is a congenital condition marked by marked growth restriction, microcephaly, and a range of n...

Microcephalic osteodysplastic primordial dwarfism type II is a form of microcephalic primordial dwarfism characterized by severe pre- and postnatal gr...

Microcephalic osteodysplastic primordial dwarfism types I and III is a condition characterized by significant intrauterine and postnatal growth retard...

Microcephalic osteodysplastic primordial dwarfism, type 3 is a condition that is suggested by its name to involve significant differences in overall g...

Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic disorder characterized by primary microcephaly, profound short stature, an...

Microcephalic primordial dwarfism, Toriello type is a condition characterized by prenatal-onset growth retardation, microcephaly, and cataracts, along...

Microcephaly is a developmental disorder characterized by a head circumference that is smaller than expected for an individual’s age and sex. It can b...

Microcephaly 1, primary, autosomal recessive is a condition characterized by a significantly smaller head size and brain volume, commonly resulting in...