NM_005120.3(MED12):c.2422+30C>T AND X-linked intellectual disability with marfanoid habitus
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001775736.2
Allele description [Variation Report for NM_005120.3(MED12):c.2422+30C>T]
NM_005120.3(MED12):c.2422+30C>T
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: Mar 10, 2024