Single allele AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002247713.4
Allele description [Variation Report for Single allele]
Condition(s)
- Name:
- Pulmonary valve stenosis
- Identifiers:
- MONDO: MONDO:0006936; MedGen: C0034089
- Name:
- Short stature
- Identifiers:
- MedGen: C0349588; Human Phenotype Ontology: HP:0004322
- Name:
- Failure to thrive
- Synonyms:
- Pediatric failure to thrive
- Identifiers:
- MedGen: C2315100; Human Phenotype Ontology: HP:0001508
- Name:
- Scoliosis
- Identifiers:
- MONDO: MONDO:0005392; MedGen: C0036439; Human Phenotype Ontology: HP:0002650
- Name:
- Nystagmus
- Identifiers:
- MONDO: MONDO:0004843; MedGen: C0028738; Human Phenotype Ontology: HP:0000639
- Name:
- Microcephaly
- Synonyms:
- Microcephaly (disease)
- Identifiers:
- MONDO: MONDO:0001149; MedGen: C4551563; Human Phenotype Ontology: HP:0000252
- Name:
- Intellectual disability
- Synonyms:
- Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
- Identifiers:
- MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
- Name:
- Gray matter heterotopia
- Synonyms:
- Gray matter heterotopias
- Identifiers:
- MedGen: C0266491; Human Phenotype Ontology: HP:0002282
- Name:
- Parietal foramina
- Synonyms:
- Symmetrical, oval parietal bone defects
- Identifiers:
- MONDO: MONDO:0018953; MedGen: C0222706; OMIM: PS168500; Human Phenotype Ontology: HP:0002697
- Name:
- Proportionate short stature
- Identifiers:
- MedGen: C0878660; Human Phenotype Ontology: HP:0003508
- Name:
- Intellectual disability, severe
- Identifiers:
- MedGen: C0036857; Human Phenotype Ontology: HP:0010864
Assertion and evidence details
Last Updated: Oct 14, 2023