46;XY;t(9;14)(p21;q12)dn AND multiple conditions
- Germline classification:
- Uncertain significance (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:
- RCV000258597.1
Allele description [Variation Report for 46;XY;t(9;14)(p21;q12)dn]
46;XY;t(9;14)(p21;q12)dn
Condition(s)
- Name:
- Velopharyngeal insufficiency
- Synonyms:
- Palatopharyngeal incompetence; Congenital velopharyngeal incompetence
- Identifiers:
- MONDO: MONDO:0008180; MedGen: C0042454; OMIM: 167500; Human Phenotype Ontology: HP:0000220
- Name:
- Pulmonary hypoplasia
- Identifiers:
- MONDO: MONDO:0800133; MedGen: C0265783; Human Phenotype Ontology: HP:0002089
- Name:
- Epistaxis
- Identifiers:
- MedGen: C0014591; Human Phenotype Ontology: HP:0000421
- Name:
- Hypernasal speech
- Synonyms:
- Nasal speech
- Identifiers:
- MedGen: C0454555; Human Phenotype Ontology: HP:0001611
- Name:
- Speech apraxia
- Identifiers:
- MedGen: C0264611; Human Phenotype Ontology: HP:0011098
- Name:
- Recurrent otitis media
- Identifiers:
- MedGen: C0747085; Human Phenotype Ontology: HP:0000403
- Name:
- Autism with high cognitive abilities
- Identifiers:
- MedGen: C4025832; Human Phenotype Ontology: HP:0000753
- Name:
- Abnormality of the respiratory system
- Identifiers:
- MedGen: C4018871; Human Phenotype Ontology: HP:0002086
- Name:
- Bilateral lung agenesis
- Identifiers:
- MedGen: C4021610; Human Phenotype Ontology: HP:0005944
- Name:
- Asthma
- Identifiers:
- MONDO: MONDO:0004979; MedGen: C0004096; Human Phenotype Ontology: HP:0002099
Assertion and evidence details
Last Updated: Sep 8, 2024