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GTR Home > Conditions/Phenotypes > Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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

Synonyms
MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED; Myopathy with cataract and combined respiratory-chain deficiency; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from ORDO]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALR, ERV1, HERV1, HPO, HPO1, HPO2, HSS, MMCHD, MPMCD, GFER
    Summary: growth factor, augmenter of liver regeneration

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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