A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D010641:Phenotype; D013977:Tibia / Q000002:abnormalities