Rare Disease Library

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

Isolated agenesis of gallbladder

Isolated arrhinia

Isolated nose agenesis

Isolated cerebellar agenesis

Near total absence of cerebellum · Subtotal absence of cerebellum

Isolated cerebellar vermis agenesis

Isolated corpus callosum agenesis

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

Isolated partial cerebellar vermis agenesis

Isolated partial vaginal agenesis

Congenital absence of vagina

Isolated total cerebellar vermis agenesis

Renal agenesis