NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003476193.1
Allele description [Variation Report for NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)]
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
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
Assertion and evidence details
Last Updated: Mar 30, 2024