NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002221564.2
Allele description [Variation Report for NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)]
NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)
Condition(s)
- Name:
- Seizure
- Synonyms:
- Seizures
- Identifiers:
- MedGen: C0036572; Human Phenotype Ontology: HP:0001250
- Name:
- Syndactyly
- Synonyms:
- Webbed fingers or toes
- Identifiers:
- MONDO: MONDO:0021002; MedGen: C0039075; Human Phenotype Ontology: HP:0001159
- Name:
- Tapered finger
- Synonyms:
- Tapered fingers
- Identifiers:
- MedGen: C0426886; Human Phenotype Ontology: HP:0001182
- Name:
- Deeply set eye
- Synonyms:
- Enophthalmos
- Identifiers:
- MONDO: MONDO:0001210; MedGen: C0423224; Human Phenotype Ontology: HP:0000490
- Name:
- Pointed chin
- Identifiers:
- MedGen: C1844505; Human Phenotype Ontology: HP:0000307
- Name:
- Mandibular prognathia
- Synonyms:
- Habsburg jaw; Hapsburg jaw
- Identifiers:
- MONDO: MONDO:0008312; MeSH: D008313; MedGen: C0399526; OMIM: 176700; Human Phenotype Ontology: HP:0000303
- Name:
- Abnormal facial shape
- Synonyms:
- Dysmorphic facies; Dysmorphic facial features
- Identifiers:
- MedGen: C0424503; Human Phenotype Ontology: HP:0001999
- Name:
- Thin upper lip vermilion
- Identifiers:
- MedGen: C1865017; Human Phenotype Ontology: HP:0000219
- Name:
- Underdeveloped nasal alae
- Identifiers:
- MedGen: C1834055; Human Phenotype Ontology: HP:0000430
- 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:
- Toe clinodactyly
- Identifiers:
- MedGen: C4021770; Human Phenotype Ontology: HP:0001863
- Name:
- Asymmetry of the ears
- Identifiers:
- MedGen: C1168239; Human Phenotype Ontology: HP:0010722
Assertion and evidence details
Last Updated: Sep 1, 2024