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References OMIM Gene GeneReviews HGMD HGNC
last update : 13-04-2017
Location 17p13.3
Name muscular dystrophy with cataracts and intellectual disability
Corresponding gene INPP5K
Main clinical features
  • muscular dystrophy with onset of progressive muscle weakness in early childhood; almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures, associated with contractures, scoliosis, spinal rigidity, microcephaly, hyperlaxity in finger joints, intention tremor, seizures, or hypogonadism
  • delayed motor milestones, hypotonia with muscle weakness and atrophy affecting the proximal muscles more than the distal muscles, and the lower limbs more than the upper limbs, resulting in gait difficulties, and most patients became wheelchair-bound in adulthood
  • muscle MRI revealed progressive degenerative myopathy
  • Genetic determination autosomal recessive
    Function/system disorder eye
    mental retardation
    Type disease