Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism

Alternative Names

  • Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition
  • Ataxia, Delayed Dentition, and Hypomyelination
  • ADDH
  • Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
  • 4H Syndrome
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WHO-ICD-10 version:2010

Diseases of the nervous system

Other disorders of the nervous system

OMIM Number

607694

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q22.3

Description

Leukodystrophies are rare degenerative disorders that involve mainly the white matter of the brain. It is associated specific clinical features including neurological deterioration following a period of normal development, predominant involvement of the motor function at least initially, and absence of convulsions or myoclonus. Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome (spasticity, hyperreflexia), and dental agenesis.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614258.1.1SyriaMaleYesYes Agenesis of permanent teeth; Dysarthria...NM_007055.4:c.2003+18G>AHomozygousAutosomal, RecessiveAtrouni et al. 2003; Bernard et al. 2012
614258.1.2SyriaFemaleYesYes Agenesis of permanent teeth; Dysarthria...NM_007055.4:c.2003+18G>AHomozygousAutosomal, RecessiveAtrouni et al. 2003; Bernard et al. 2012 Sibling of 614258.1....
614258.1.3SyriaFemaleYesYes Agenesis of permanent teeth; Dysarthria...NM_007055.4:c.2003+18G>AHomozygousAutosomal, RecessiveAtrouni et al. 2003; Bernard et al. 2012 Sibling of 614258.1....
614258.1.4SyriaFemaleYesYes Agenesis of permanent teeth; Dysarthria...NM_007055.4:c.2003+18G>AHomozygousAutosomal, RecessiveAtrouni et al. 2003; Bernard et al. 2012 Sibling of 614258.1....
614258.1.5SyriaMaleYesYes Agenesis of permanent teeth; Dysarthria...NM_007055.4:c.2003+18G>AHomozygousAutosomal, RecessiveAtrouni et al. 2003; Bernard et al. 2012 First cousin of 6142...
614258.1.6SyriaMaleYesYes Agenesis of permanent teeth; Dysarthria...NM_007055.4:c.2003+18G>AHomozygousAutosomal, RecessiveAtrouni et al. 2003; Bernard et al. 2012 First cousin of 6142...

Other Reports

Syria

Atrouni et al. (2003) studied four Syrian sibs of consanguineous parents with oligodontia, a neurodegenerative disease appearing at around age 12 years with abnormalities of the white matter, and cortical atrophy. The patients were one brother and three sisters. The authors suggested an autosomal recessive inheritance of the disease due to the presence of consanguinity. Later, Chouery et al (2010) used microsatellite markers to narrow down the locus of the causal gene in this family to a region on chromosome 10q22. 

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