label: congenital muscular dystrophy with cataracts and intellectual disability
label_lc: congenital muscular dystrophy with cataracts and intellectual disability
description: 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.