GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1 AND Anophthalmia/microphthalmia-esophageal atresia syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001267845.1
Allele description [Variation Report for GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1]
GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1
Condition(s)
- Name:
- Anophthalmia/microphthalmia-esophageal atresia syndrome (MCOPS3)
- Synonyms:
- Microphthalmia syndromic 3; Microphthalmia and esophageal atresia syndrome; Anophthalmia clinical with associated anomalies; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008799; MedGen: C1859773; Orphanet: 77298; OMIM: 206900
Assertion and evidence details
Last Updated: Dec 17, 2022