NM_000303.3(PMM2):c.255+2T>C AND Intellectual disability
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257699.2
Allele description [Variation Report for NM_000303.3(PMM2):c.255+2T>C]
NM_000303.3(PMM2):c.255+2T>C
Condition(s)
- 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
Assertion and evidence details
Last Updated: Sep 29, 2024