46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn AND multiple conditions
- Germline classification:
- 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:
- RCV000258691.2
Allele description [Variation Report for 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn]
46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn
Condition(s)
- Name:
- Epicanthus
- Synonyms:
- Epicanthal fold
- Identifiers:
- MedGen: C0678230; OMIM: 131500; Human Phenotype Ontology: HP:0000286
- Name:
- Short phalanx of finger
- Identifiers:
- MedGen: C0877165; Human Phenotype Ontology: HP:0009803
- Name:
- Hypertonia
- Identifiers:
- MedGen: C0026826; Human Phenotype Ontology: HP:0001276
- Name:
- Brachycephaly
- Identifiers:
- MedGen: C0221356; Human Phenotype Ontology: HP:0000248
- Name:
- Deeply set eye
- Synonyms:
- Enophthalmos
- Identifiers:
- MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490
- Name:
- Macrotia
- Identifiers:
- MedGen: C0152421; Human Phenotype Ontology: HP:0000400
- Name:
- Short nose
- Synonyms:
- Nasal hypoplasia
- Identifiers:
- MedGen: C1854114; Human Phenotype Ontology: HP:0003196
- Name:
- Wide mouth
- Identifiers:
- MedGen: C0024433; Human Phenotype Ontology: HP:0000154
- Name:
- Hydrocele testis
- Synonyms:
- Hydrocele
- Identifiers:
- MONDO: MONDO:0004920; MedGen: C1720771; Human Phenotype Ontology: HP:0000034
- Name:
- Umbilical hernia
- Identifiers:
- MedGen: C0019322; Human Phenotype Ontology: HP:0001537
- Name:
- Hypoplastic nasal bridge
- Identifiers:
- MedGen: C1865597; Human Phenotype Ontology: HP:0005281
Assertion and evidence details
Last Updated: Jan 26, 2024