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GTR Home > Conditions/Phenotypes > Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome

Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome

Summary

Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome (MDHLO) is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency. Features of the disorder appear soon after birth, although endocrine anomalies are not noted until puberty. The severity of the phenotype is variable: some patients may lose ambulation and have significant respiratory insufficiency, whereas others retain the ability to walk (Foley et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: GGPPS, GGPPS1, MDHLO, MUDHLOV, GGPS1
    Summary: geranylgeranyl diphosphate synthase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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