GRCh37/hg19 19p13.3(chr19:259395-3152419) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626520.2
Allele description [Variation Report for GRCh37/hg19 19p13.3(chr19:259395-3152419)]
GRCh37/hg19 19p13.3(chr19:259395-3152419)
Condition(s)
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
- Name:
- Seizure
- Synonyms:
- Seizures
- Identifiers:
- MedGen: C0036572; Human Phenotype Ontology: HP:0001250
- Name:
- Hypotonia
- Synonyms:
- Muscular hypotonia; poor muscle tone
- Identifiers:
- MedGen: C0026827; Human Phenotype Ontology: HP:0001252
Assertion and evidence details
Last Updated: Oct 8, 2024