46;XX;t(3;18;5;7)(p25;p11.2;q13.3;q32);t(9;18)(p22;q21)dn AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 20, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000258698.1
Allele description [Variation Report for 46;XX;t(3;18;5;7)(p25;p11.2;q13.3;q32);t(9;18)(p22;q21)dn]
46;XX;t(3;18;5;7)(p25;p11.2;q13.3;q32);t(9;18)(p22;q21)dn
Condition(s)
- Name:
- Partial agenesis of the corpus callosum (PACC)
- Synonyms:
- Partial agenesis of corpus callosum; Severe intellectual retardation and intractable seizures
- Identifiers:
- MedGen: C0431368; Human Phenotype Ontology: HP:0001338
- Name:
- Ventriculomegaly
- Identifiers:
- MedGen: C3278923; Human Phenotype Ontology: HP:0002119
Assertion and evidence details
Last Updated: Apr 23, 2022