Isolated cerebellar vermis hypoplasia is a non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis that can lead to...

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 breast hypoplasia/aplasia is a condition characterized by the underdevelopment or absence of breast tissue and nipples, with recog...

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

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 is a condition characterized by the development of an unusually small tongue that is present at birth. Although the sp...

Isolated congenital hypoglossia/aglossia refers to a spectrum of congenital tongue malformations ranging from a very small tongue (microglossia) to co...