NM_001015877.2(PHF6):c.927C>T (p.Asp309=) AND Borjeson-Forssman-Lehmann syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001080165.14
Allele description [Variation Report for NM_001015877.2(PHF6):c.927C>T (p.Asp309=)]
NM_001015877.2(PHF6):c.927C>T (p.Asp309=)
Condition(s)
- Name:
- Borjeson-Forssman-Lehmann syndrome (BFLS)
- Synonyms:
- Borjeson Syndrome; Mental deficiency, epilepsy and endocrine disorders; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010537; MedGen: C0265339; Orphanet: 127; OMIM: 301900
Assertion and evidence details
Last Updated: Apr 20, 2024