autosomal recessive dyskeratosis congenita 1

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.

Signs and symptoms

• Reticular hyperpigmentation
• Palmoplantar hyperkeratosis
• Nail dystrophy
• Small nail
• Esophageal stricture
• Nail pterygium
• Hepatic fibrosis
• Osteoporosis
• Hyperpigmentation of the skin
• Nasolacrimal duct obstruction

Also known as: DKCB1