46;XY;t(8;10)(q13;p13)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:
- RCV000258522.1
Allele description [Variation Report for 46;XY;t(8;10)(q13;p13)dn]
46;XY;t(8;10)(q13;p13)dn
Condition(s)
- Name:
- Hypertelorism
- Identifiers:
- MedGen: C0020534; OMIM: 145400; Human Phenotype Ontology: HP:0000316
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
- Name:
- Autistic behavior
- Identifiers:
- MedGen: C0856975; Human Phenotype Ontology: HP:0000729
- Name:
- Micrognathia
- Synonyms:
- Mandibular hypoplasia
- Identifiers:
- MedGen: C0025990; Human Phenotype Ontology: HP:0000347
- Name:
- Short phalanx of finger
- Identifiers:
- MedGen: C0877165; Human Phenotype Ontology: HP:0009803
- Name:
- Growth delay
- Synonyms:
- Growth Retardation
- Identifiers:
- MedGen: C0456070; Human Phenotype Ontology: HP:0001510
- Name:
- Low-set ears
- Identifiers:
- MedGen: C0239234; Human Phenotype Ontology: HP:0000369
- Name:
- 2-3 toe syndactyly
- Identifiers:
- MedGen: C4551570; Human Phenotype Ontology: HP:0004691
- Name:
- Absent speech
- Synonyms:
- Absent speech development
- Identifiers:
- MedGen: C1854882; Human Phenotype Ontology: HP:0001344
- Name:
- Single transverse palmar crease
- Identifiers:
- MedGen: C0424731; Human Phenotype Ontology: HP:0000954
- Name:
- Short toe
- Identifiers:
- MedGen: C1836195; Human Phenotype Ontology: HP:0001831
- Name:
- Somatic sensory dysfunction
- Synonyms:
- Sensory impairment
- Identifiers:
- MedGen: C5551413; Human Phenotype Ontology: HP:0003474
- Name:
- Bilateral conductive hearing impairment
- Identifiers:
- MedGen: C0452136; Human Phenotype Ontology: HP:0008513
- Name:
- Attention deficit hyperactivity disorder (ADHD)
- Identifiers:
- MONDO: MONDO:0007743; MedGen: C1263846; Human Phenotype Ontology: HP:0007018
Assertion and evidence details
Last Updated: Dec 7, 2024