Rare Disease Intelligence

Isolated autosomal dominant hypomagnesemia, Glaudemans type is a form of familial primary hypomagnesemia characterized by low serum magnesium levels w...

Isolated bone marrow mastocytosis is a rare condition characterized by the accumulation of mast cells in the bone marrow. Currently, there are no iden...

Isolated cerebellar hypoplasia/agenesis is a neurological condition characterized by an underdeveloped cerebellum, which plays a crucial role in balan...

Isolated chorioretinal dystrophy is an ocular condition that primarily affects the retina and choroid, leading to visual disturbances. The precise cau...

Isolated cleft palate is a congenital condition characterized by an opening in the roof of the mouth that occurs without other associated syndromic fe...

Isolated congenital anosmia is a condition in which an individual is born with either a total or partial inability to perceive odors. The condition is...

Isolated congenital digital clubbing is a rare genodermatosis characterized by the enlargement of the terminal segments of the fingers and toes with t...