NC_000014.9:g.87925163_87956828del AND Galactosylceramide beta-galactosidase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001542382.1
Allele description [Variation Report for NC_000014.9:g.87925163_87956828del]
NC_000014.9:g.87925163_87956828del
Condition(s)
- Name:
- Galactosylceramide beta-galactosidase deficiency
- Synonyms:
- Krabbe leukodystrophy; Globoid cell leukoencephalopathy; Galactocerebrosidase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009499; MedGen: C0023521; Orphanet: 487; OMIM: 245200
Assertion and evidence details
Last Updated: Oct 14, 2023