autosomal dominant dyskeratosis congenita 6

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1.

Signs and symptoms

• Short telomere length
• Aplastic anemia
• Bone marrow hypocellularity
• Microcephaly
• Cerebellar hypoplasia
• Global developmental delay
• Esophageal stenosis
• Intrauterine growth retardation
• Nail dystrophy
• Oral leukoplakia

Also known as: DKCA6