NM_001321075.3(DLG4):c.1543+2T>C AND Marfanoid habitus and intellectual disability
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000850484.8
Allele description
NM_001321075.3(DLG4):c.1543+2T>C
Condition(s)
- Name:
- Marfanoid habitus and intellectual disability
- Identifiers:
- MedGen: CN263130
Assertion and evidence details
Last Updated: Oct 21, 2023