autosomal recessive dyskeratosis congenita 2

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3.

Signs and symptoms

• Bone marrow hypocellularity
• Nail dystrophy
• Cirrhosis
• Recurrent opportunistic infections
• Testicular atrophy
• Cerebral calcification
• Growth delay
• Thrombocytopenia
• Oral leukoplakia
• Intellectual disability

Also known as: DKCB2