Rare Disease Library

Isolated arrhinia

Isolated nose agenesis

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Isolated adrenal medullary hyperplasia

Isolated AMH

Isolated agenesis of gallbladder

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 partial cerebellar vermis agenesis

Isolated partial vaginal agenesis

Congenital absence of vagina

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

Isolated total cerebellar vermis agenesis

Non-syndromic pansynostosis

Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures

Paramedian nasal cleft

Isolated cleft of the ala nasi · Alar cleft