NM_024301.5(FKRP):c.249C>T (p.Ala83=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002483151.8
Allele description [Variation Report for NM_024301.5(FKRP):c.249C>T (p.Ala83=)]
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 (MDDGA1)
- Synonyms:
- Hydrocephalus, agyria and retinal dysplasia; Hard +/- E syndrome; Warburg syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009364; MedGen: C4284790; Orphanet: 588; Orphanet: 899; OMIM: 236670
- Name:
- Muscular dystrophy-dystroglycanopathy type B5 (MDDGB5)
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MUSCULAR DYSTROPHY, CONGENITAL, 1C; MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
- Identifiers:
- MONDO: MONDO:0011688; MedGen: C1847759; OMIM: 606612
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2I
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011787; MedGen: C1846672; Orphanet: 34515; OMIM: 607155
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
- Identifiers:
- MONDO: MONDO:0013157; MedGen: C3150413; Orphanet: 588; Orphanet: 899; OMIM: 613153
Assertion and evidence details
Last Updated: Oct 26, 2024