Orphanet: Congenital cataract progressive muscular hypotonia hearing loss developmental delay syndrome

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Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Disease definition

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.


Classification level: Disorder
  • Synonym(s):
    • Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • OMIM: 613076
  • UMLS: C2751320
  • MeSH: -
  • GARD: 10522
  • MedDRA: -
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