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4H leukodystrophy

Disease definition

A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.

ORPHA:289494

Classification level: Disorder
  • Synonym(s):
    • POLR-related leukodystrophy
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy, Childhood, Adolescent, Adult
  • ICD-10: G93.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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