NM_001349338.3(FOXP1):c.1664T>C (p.Leu555Pro) AND Intellectual disability-severe speech delay-mild dysmorphism syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 7, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331511.2
Allele description [Variation Report for NM_001349338.3(FOXP1):c.1664T>C (p.Leu555Pro)]
NM_001349338.3(FOXP1):c.1664T>C (p.Leu555Pro)
Condition(s)
- Name:
- Intellectual disability-severe speech delay-mild dysmorphism syndrome (IDDLA)
- Synonyms:
- Mental retardation with language impairment and autistic features; Intellectual developmental disorder with language impairment AND with or without autistic features
- Identifiers:
- MONDO: MONDO:0013352; MedGen: C4013764; Orphanet: 391372; OMIM: 613670
Assertion and evidence details
Last Updated: Dec 7, 2024