NM_019023.5(PRMT7):c.282+1G>A AND Short stature-brachydactyly-obesity-global developmental delay syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003990839.2
Allele description [Variation Report for NM_019023.5(PRMT7):c.282+1G>A]
NM_019023.5(PRMT7):c.282+1G>A
Condition(s)
- Name:
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- Synonyms:
- Short stature, brachydactyly, intellectual developmental disability, and seizures; SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
- Identifiers:
- MONDO: MONDO:0014944; MedGen: C4310689; OMIM: 617157
Assertion and evidence details
Last Updated: Aug 4, 2024