NC_000011.9:g.(?_71146674)_(71155299_?)del AND Smith-Lemli-Opitz syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003107366.3
Allele description [Variation Report for NC_000011.9:g.(?_71146674)_(71155299_?)del]
NC_000011.9:g.(?_71146674)_(71155299_?)del
Condition(s)
- Name:
- Smith-Lemli-Opitz syndrome (SLOS)
- Synonyms:
- LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010035; MedGen: C0175694; Orphanet: 818; OMIM: 270400
Assertion and evidence details
Last Updated: Nov 11, 2023