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Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Disease definition

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.


  • Synonym(s):
    • 4H syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Adolescent
  • ICD-10: G11.1
  • OMIM: 607694  614381  616494
  • UMLS: C2676243
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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Additional information

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