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GTR Home > Conditions/Phenotypes > Congenital muscular dystrophy with cataracts and intellectual disability

Congenital muscular dystrophy with cataracts and intellectual disability

Synonyms
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND IMPAIRED INTELLECTUAL DEVELOPMENT

Summary

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have impaired intellectual development of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MDCCAID, PPS, SKIP, INPP5K
    Summary: inositol polyphosphate-5-phosphatase K

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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