congenital muscular dystrophy with cataracts and intellectual disability

A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p1

A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Cataract
• Hypotonia
• Motor delay
• Strabismus
• Short stature
• Gowers sign
• Increased adipose tissue
• Hyperlordosis
• Proximal amyotrophy

Also known as: congenital muscular dystrophy with cataracts and impaired intellectual development