NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001244113.3
Allele description [Variation Report for NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu)]
NM_152490.5(B3GALNT2):c.268G>T (p.Val90Leu)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 (MDDGA11)
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11
- Identifiers:
- MONDO: MONDO:0014071; MedGen: C3554638; Orphanet: 588; Orphanet: 899; OMIM: 615181
Assertion and evidence details
Last Updated: Feb 14, 2024