Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly.
D000015:Abnormalities, Multiple / Q000235:genetics*; D055415:Bone Morphogenetic Protein 4 / Q000235:genetics*; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D011596:Psychomotor Disorders / Q000235:genetics; D013576:Syndactyly / Q000235:genetics; D014034:Toes / Q000002:abnormalities
C525809:BMP4 protein, human; D055415:Bone Morphogenetic Protein 4