Macular coloboma and skeletal abnormality.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000469:Alkaline Phosphatase / Q000097:blood; D002972:Cleft Palate / Q000235:genetics*; D003103:Coloboma / Q000150:complications; D005124:Eye Abnormalities; D005260:Female; D005808:Genes, Recessive; D006215:Hallux Valgus / Q000235:genetics*; D006801:Humans; D006956:Hyperopia; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D009759:Nystagmus, Pathologic
D000469:Alkaline Phosphatase