46;XY;t(5;7)(q14.3;q21.3)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:
- RCV000258720.3
Allele description [Variation Report for 46;XY;t(5;7)(q14.3;q21.3)dn]
46;XY;t(5;7)(q14.3;q21.3)dn
Condition(s)
- Name:
- Sensorineural hearing loss disorder
- Synonyms:
- Sensorineural hearing loss; Sensorineural hearing impairment
- Identifiers:
- MONDO: MONDO:0020678; MeSH: D006319; MedGen: C0018784; Human Phenotype Ontology: HP:0000407
- Name:
- Seizure
- Synonyms:
- Seizures
- Identifiers:
- MedGen: C0036572; Human Phenotype Ontology: HP:0001250
- Name:
- Intellectual disability
- Synonyms:
- Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
- Identifiers:
- MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
- Name:
- Hypotonia
- Synonyms:
- Muscular hypotonia; poor muscle tone
- Identifiers:
- MedGen: C0026827; Human Phenotype Ontology: HP:0001252
Assertion and evidence details
Last Updated: Apr 15, 2024