Autosomal recessive colobomatous microphthalmia.
Colobomatous microphthalmia was studied in multiple relatives of 5 families. In these families, the disorder was an autosomal recessive trait as opposed to the usual autosomal dominant form of the disorder. A relatively high incidence of this recessive allele is found in the Iranian Jewish community.
Zlotogora
J
J
Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Legum
C
C
Raz
J
J
Merin
S
S
BenEzra
D
D
D000328:Adult; D002648:Child; D003103:Coloboma / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007492:Iran / Q000208:ethnology; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D010375:Pedigree