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Odontoleukodystrophy

MedGen UID:
502456
Concept ID:
C3502054
Disease or Syndrome
Synonyms: Dentoleukoencephalopathy; Leukodystrophy, Dysmyelinating, with Oligodontia
SNOMED CT: Odontoleukodystrophy (722064003); Dentoleukoencephalopathy (722064003); Leukodystrophy with oligodontia (722064003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0019177
Orphanet: ORPHA77295

Definition

Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOdontoleukodystrophy

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