NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001563932.2
Allele description [Variation Report for NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)]
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 (MDDGA4)
- Synonyms:
- Fukuyama type muscular dystrophy; Muscular dystrophy, congenital progressive, with mental retardation; Muscular dystrophy, congenital, with central nervous system involvement; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009678; MedGen: C0410174; Orphanet: 588; Orphanet: 899; OMIM: 253800
Assertion and evidence details
Last Updated: Oct 8, 2024