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Hypomyelination - hypogonadotropic hypogonadism - hypodontia

Orpha number ORPHA88637
Synonym(s) 4H syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adolescent
Infancy
Childhood
ICD-10
  • E23.0
  • E75.2
  • K00.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. The mode of transmission may be either autosomal recessive or dominant.


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Detailed information

Review article
  • EN (2011)
Clinical genetics review
  • EN (2012)
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