autosomal recessive dyskeratosis congenita 5

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.

Signs and symptoms

• Cerebellar hypoplasia
• Global developmental delay
• Microcephaly
• Decreased circulating immunoglobulin concentration
• Decreased total leukocyte count
• Postnatal growth retardation
• Intrauterine growth retardation
• Bone marrow hypocellularity
• Immunodeficiency
• Colitis

Also known as: DKCB5