NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His) AND X-linked intellectual disability, Stocco dos Santos type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 2, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331133.1
Allele description [Variation Report for NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His)]
NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His)
Condition(s)
- Name:
- X-linked intellectual disability, Stocco dos Santos type (SDSX)
- Synonyms:
- Stocco dos Santos syndrome; Stocco dos Santos X-linked mental retardation syndrome; Mental retardation, Stocco dos Santos type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010325; MedGen: C1845530; Orphanet: 85288; OMIM: 300434
Assertion and evidence details
Last Updated: Aug 5, 2023