Olivopontocerebellar atrophy-deafness syndrome

MedGen UID:: 905095
•Concept ID:: C4275113
•: Disease or Syndrome

Synonyms:	Olivopontocerebellar atrophy and deafness; Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss; olivopontocerebellar atrophy deafness; olivopontocerebellar atrophy-deafness syndrome; Olivopontocerebellar atrophy-hearing loss syndrome
SNOMED CT:	Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (715483009); Olivopontocerebellar atrophy and deafness (715483009)
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:0017135
Orphanet:	ORPHA2732

Definition

Infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOlivopontocerebellar atrophy-deafness syndrome

Syndromic genetic hearing loss
- Olivopontocerebellar atrophy-deafness syndrome

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Olivopontocerebellar atrophy-deafness syndrome

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