autosomal recessive dyskeratosis congenita 6

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12.

Signs and symptoms

• Microcephaly
• Cerebellar hypoplasia
• Global developmental delay
• Short telomere length
• Bone marrow hypocellularity
• Abnormal skin pigmentation
• Nail dystrophy
• Oral leukoplakia
• Epiphora
• Carious teeth

Also known as: DKCB6