Metaphyseal and epiphyseal dysplasia with unusual facies and cataract.
D000015:Abnormalities, Multiple; D001786:Blood Glucose / Q000032:analysis; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D002386:Cataract / Q000150:complications*; D002648:Child; D004392:Dwarfism / Q000150:complications*; D004838:Epiphyses; D005149:Facial Expression; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006062:Gonadotropins / Q000652:urine; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000150:complications; D011859:Radiography; D013577:Syndrome
D001786:Blood Glucose; D006062:Gonadotropins