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Syndromic microphthalmia

MedGen UID:
1826052
Concept ID:
C5679782
Congenital Abnormality
Synonym: Syndromic microphthalmia-anophthalmia-coloboma
 
Monarch Initiative: MONDO:0016073
OMIM® Phenotypic series: PS309800
Orphanet: ORPHA202948

Definition

A microphthalmia that is part of a larger syndrome. [from MONDO]

Professional guidelines

PubMed

Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M
Eur J Hum Genet 2017 Apr;25(4) Epub 2017 Jan 18 doi: 10.1038/ejhg.2016.201. PMID: 28098148Free PMC Article

Recent clinical studies

Prognosis

Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR
Nat Genet 2000 Aug;25(4):397-401. doi: 10.1038/78071. PMID: 10932181

Clinical prediction guides

Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G
Hum Mutat 2021 May;42(5):506-519. Epub 2021 Apr 1 doi: 10.1002/humu.24179. PMID: 33565183
Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV
Clin Genet 2013 Nov;84(5):473-81. Epub 2013 Jun 17 doi: 10.1111/cge.12202. PMID: 23701296Free PMC Article
Ng D, Hadley DW, Tifft CJ, Biesecker LG
Am J Med Genet 2002 Jul 15;110(4):308-14. doi: 10.1002/ajmg.10484. PMID: 12116202

Supplemental Content

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