Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance.
Jamieson
R
R
Collins
F
F
D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000235:genetics*; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D012160:Retina / Q000002:abnormalities