NC_000011.9:g.(?_612625)_(2193840_?)dup AND Autosomal recessive DOPA responsive dystonia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001301561.1
Allele description [Variation Report for NC_000011.9:g.(?_612625)_(2193840_?)dup]
NC_000011.9:g.(?_612625)_(2193840_?)dup
Condition(s)
- Name:
- Autosomal recessive DOPA responsive dystonia
- Synonyms:
- Segawa syndrome, autosomal recessive; DYT-TH; TH-deficient dopa-responsive dystonia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011551; MedGen: C2673535; Orphanet: 101150; OMIM: 605407
Assertion and evidence details
Last Updated: Mar 26, 2023