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GTR Home > Conditions/Phenotypes > 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Synonyms
46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY; 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. [from ORDO]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GDMN, GDXYM, HHG-3, SRXY7, DHH
    Summary: desert hedgehog signaling molecule

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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