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). Autosomal recessive inheritance (Orphanet)

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]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormality of the nervous system
- Abnormal nervous system morphology
  - Abnormal myelination
    - Abnormal CNS myelination
      - Leukodystrophy
        POLR3-related leukodystrophy
        Odontoleukodystrophy

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Odontoleukodystrophy

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