Rare Disease Intelligence

Isolated congenital growth hormone deficiency is a condition that primarily affects growth and overall development in children. It is linked to geneti...

Isolated congenital hypoglossia/aglossia describes a condition in which the tongue is partially or completely absent at birth, and it is classified un...

Isolated congenital hypogonadotropic hypogonadism is a condition characterized by insufficient production of gonadotropins at birth, leading to delaye...

Isolated congenital microcephaly is a condition characterized by a significantly smaller head size present at birth. It primarily affects brain develo...

Isolated congenitally uncorrected transposition of the great arteries is a complex congenital heart defect in which the two main arteries leaving the...

Isolated craniosynostosis is a condition in which one or more of the cranial sutures fuse earlier than normal, leading to an altered head shape withou...

Isolated dystonia is a movement disorder marked by involuntary muscle contractions that lead to abnormal postures and twisting movements. It is define...