46;XX;t(5;10)(p13.3;q21.1)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:
- RCV000258685.1
Allele description [Variation Report for 46;XX;t(5;10)(p13.3;q21.1)dn]
46;XX;t(5;10)(p13.3;q21.1)dn
Condition(s)
- 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:
- Expressive language delay
- Identifiers:
- MedGen: C0454641; Human Phenotype Ontology: HP:0002474
- Name:
- Enuresis
- Identifiers:
- MONDO: MONDO:0024290; MedGen: C0014394; Human Phenotype Ontology: HP:0000805
- Name:
- Atypical behavior
- Synonyms:
- Behavioral abnormality
- Identifiers:
- MedGen: C0233514; Human Phenotype Ontology: HP:0000708
- Name:
- Self-injurious behavior
- Identifiers:
- MedGen: C0085271; Human Phenotype Ontology: HP:0100716
- Name:
- Receptive language delay
- Identifiers:
- MedGen: C0454642; Human Phenotype Ontology: HP:0010863
- Name:
- Depression
- Synonyms:
- Depressive disorder; Depressivity; Mental depression
- Identifiers:
- MONDO: MONDO:0002050; MeSH: D003866; MedGen: C0011581; Human Phenotype Ontology: HP:0000716
- Name:
- Delayed gross motor development
- Identifiers:
- MedGen: C1837658; Human Phenotype Ontology: HP:0002194
- Name:
- Developmental regression
- Synonyms:
- C1836830
- Identifiers:
- MedGen: C1836830; Human Phenotype Ontology: HP:0002376
- Name:
- Delayed fine motor development
- Identifiers:
- MedGen: C4023681; Human Phenotype Ontology: HP:0010862
-
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Last Updated: Aug 13, 2023