NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) AND X-linked intellectual disability with marfanoid habitus
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001809148.1
Allele description [Variation Report for NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)]
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)
Condition(s)
- Name:
- X-linked intellectual disability with marfanoid habitus
- Synonyms:
- Mental retardation, X-linked, with marfanoid habitus; Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies; X-linked mental retardation with marfanoid habitus syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010655; MedGen: C0796022; Orphanet: 776; OMIM: 309520
Assertion and evidence details
Last Updated: Feb 28, 2024